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  • Results 1 to 9 of 9
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    • 1 Post By PreDator

    Thread: List of Rare Diseases

    1. #1
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      Thumbs up List of Rare Diseases

      Rare Diseases


      A

      * Aagenaes syndrome
      * Aarskog syndrome
      * Aase Smith syndrome
      * Aase syndrome
      * ABCD syndrome
      * Abderhalden-Kaufmann-Lignac syndrome
      * Abdominal aortic aneurysm
      * Abdominal chemodectomas with cutaneous angiolipomas
      * Abdominal cystic lymphangioma
      * Abdominal obesity metabolic syndrome
      * Aberrant subclavian artery
      * Abetalipoproteinemia
      * Abidi X-linked mental retardation syndrome
      * Ablepharon macrostomia syndrome
      * Abrikosov's tumor
      * Abruzzo Erickson syndrome
      * Absence defect of limbs, scalp, and skull
      * Absence of Gluteal muscle
      * Absence of septum pellucidum
      * Absence of Tibia
      * Absence of tibia with polydactyly
      * Absent abdominal musculature with microphthalmia and joint laxity
      * Absent breasts and nipples
      * Absent corpus callosum cataract immunodeficiency
      * Absent duct of Santorini
      * Absent patella
      * Absent T lymphocytes
      * Abuse dwarfism syndrome
      * Acalvaria
      * Acanthamoeba infection
      * Acanthocheilonemiasis
      * Acanthokeratodermia
      * Acanthoma
      * Acanthosis nigricans
      * Acanthosis nigricans muscle cramps acral enlargement
      * Acardia
      * Acatalasemia
      * Accessory deep peroneal nerve
      * Accessory navicular bone
      * Accessory pancreas
      * Aceruloplasminemia
      * Acetylcarnitine deficiency
      * Acetyl-coa acetyltransferase 2 deficiency
      * Achalasia
      * Achalasia Addisonianism Alacrimia syndrome
      * Achalasia alacrimia syndrome
      * Achalasia microcephaly
      * Achalasia, familial esophageal
      * Achard syndrome
      * Achard-Thiers syndrome
      * Acheiropodia
      * Achondrogenesis type 1A
      * Achondrogenesis type 1B
      * Achondrogenesis type 2
      * Achondrogenesis, type 3
      * Achondrogenesis, type 4
      * Achondroplasia
      * Achondroplasia and Swiss type agammaglobulinemia
      * Achromatopsia 1
      * Achromatopsia 2
      * Achromatopsia 3
      * Achromatopsia incomplete, X-linked
      * Acidemia propionic
      * Acidemia, isovaleric
      * Acinic cell carcinoma
      * Acitretin embryopathy
      * Ackerman syndrome
      * Acoustic neuroma
      * Acquired agranulocytosis
      * Acquired amegakaryocytic thrombocytopenia
      * Acquired angioedema
      * Acquired hypoprothrombinemia
      * Acquired ichthyosis
      * Acquired prothrombin deficiency
      * Acquired pure megakaryocytic aplasia
      * Acral dysostosis dyserythropoiesis
      * Acral lentiginous melanoma
      * Acro coxo mesomelic dysplasia
      * Acrocallosal syndrome, Schinzel type
      * Acrocephalopolydactyly
      * Acrocephaly pulmonary stenosis mental retardation
      * Acrodermatitis
      * Acrodermatitis enteropathica
      * Acrodysostosis
      * Acrodysplasia scoliosis
      * Acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia
      * Acrofacial dysostosis ambiguous genitalia
      * Acrofacial dysostosis atypical postaxial
      * Acrofacial dysostosis Catania form
      * Acrofacial dysostosis Preis type
      * Acrofacial dysostosis Rodriguez type
      * Acrofacial dysostosis, Nager type
      * Acrofacial dysostosis, Palagonia type
      * Acrofrontofacionasal dysostosis syndrome
      * Acrogeria, gottron type
      * Acrokeratoelastoidosis of Costa
      * Acromegaloid changes, cutis verticis gyrata and corneal leukoma
      * Acromegaloid facial appearance syndrome
      * Acromegaloid features, overgrowth, cleft palate, and hernia
      * Acromegaloid hypertrichosis syndrome
      * Acromegaly
      * Acromelic frontonasal dysplasia
      * Acromesomelic dysplasia
      * Acromesomelic dysplasia Campailla Martinelli type
      * Acromesomelic dysplasia Hunter Thompson type
      * Acromesomelic dysplasia, Maroteaux type
      * Acromicric dysplasia
      * Acroosteolysis dominant type
      * Acropectoral syndrome
      * Acropectorenal field defect
      * Acropectorovertebral dysplasia
      * Acrorenal mandibular syndrome
      * Acrorenal syndrome recessive
      * Acrospiroma
      * ACTH deficiency
      * ACTH resistance
      * Actinic cheilitis
      * Actinomycetales infection
      * Acutane embryopathy
      * Acute articular rheumatism
      * Acute biphenotypic leukemia
      * Acute cholinergic dysautonomia
      * Acute disseminated encephalomyelitis
      * Acute erythroblastic leukemia
      * Acute erythroleukemia
      * Acute fatty liver of pregnancy
      * Acute hemorrhagic leukoencephalitis
      * Acute idiopathic polyneuritis
      * Acute intermittent porphyria
      * Acute lymphoblastic leukemia congenital sporadic aniridia
      * Acute lymphoblastic leukemia, adult
      * Acute megakaryoblastic leukemia
      * Acute monoblastic leukemia
      * Acute mountain sickness
      * Acute myeloblastic leukemia type 1
      * Acute myeloblastic leukemia type 2
      * Acute myeloblastic leukemia type 3
      * Acute myeloblastic leukemia type 4
      * Acute myeloblastic leukemia type 5
      * Acute myeloblastic leukemia type 6
      * Acute myeloblastic leukemia type 7
      * Acute myeloblastic leukemia with maturation
      * Acute myeloblastic leukemia without maturation
      * Acute myelocytic leukemia
      * Acute myelogenous leukemia
      * Acute myeloid leukemia, adult
      * Acute myelomonocytic leukemia
      * Acute necrotizing ulcerative gingivitis
      * Acute non lymphoblastic leukemia (generic term)
      * Acute posterior multifocal placoid pigment
      * Acute promyelocytic leukemia
      * Acute respiratory distress syndrome
      * Acute zonal occult outer retinopathy
      * Acyl-CoA oxidase deficiency
      * Adactylia unilateral dominant
      * Adams Nance syndrome
      * Adams Oliver syndrome
      * Addison's disease
      * Adducted thumb and clubfoot syndrome
      * Adducted thumb syndrome recessive form
      * Adducted thumbs Dundar type
      * Adenine phosphoribosyltransferase deficiency
      * Adenoameloblastoma
      * Adenocarcinoid tumor
      * Adenocarcinoma of lung
      * Adenoid cystic carcinoma
      * Adenoma of the adrenal gland
      * Adenomyosis
      * Adenosarcoma of the uterus
      * Adenosine deaminase deficiency
      * Adenosine monophosphate deaminase deficiency
      * Adenosine triphosphatase deficiency, anemia due to
      * Adenylosuccinate lyase deficiency
      * Adie syndrome
      * Adiposis dolorosa
      * Adnexal, spiradenoma/cylindroma, of a sweat gland
      * Adrenal adenoma, familial
      * Adrenal cancer
      * Adrenal gland hyperfunction
      * Adrenal gland hypofunction
      * Adrenal hyperplasia
      * Adrenal hyperplasia 2
      * Adrenal hyperplasia, congenital, type 5
      * Adrenal hypertension
      * Adrenal incidentaloma
      * Adrenal macropolyadenomatosis
      * Adrenal medulla neoplasm
      * Adrenocortical carcinoma
      * Adrenoleukodystrophy, autosomal, neonatal form
      * Adrenomyodystrophy
      * Adult low grade infiltrative supratentorial Astrocytoma Oligodendroglioma
      * Adult onset angioedema
      * Adult onset Still's disease
      * Adult progressive spinal muscular atrophy Aran Duchenne type
      * Adult spinal muscular atrophy
      * ADULT syndrome
      * Adult-onset citrullinemia type 2
      * Advanced sleep phase syndrome
      * Aerobic actinomyces infection
      * Afibrinogenemia
      * African trypanosomiasis
      * Agammaglobulinemia, microcephaly, and severe dermatitis
      * Agammaglobulinemia, non-Bruton type
      * Agammaglobulinemia, X-linked, type 2
      * Aganglionosis, total intestinal
      * Aggressive fibromatosis
      * Aggressive systemic mastocytosis
      * Aglossia and Situs Inversus
      * Agnathia-microstomia-synotia
      * Agnosia
      * Agyria pachygyria polymicrogyria
      * Agyria-pachygyria type 1
      * Ahumada-Del Castillo syndrome
      * Aicardi syndrome
      * Aicardi-Goutieres syndrome
      * Aicardi-Goutieres syndrome 5
      * AIDS Dementia Complex
      * AIDS dysmorphic syndrome
      * Ainhum
      * Akaba Hayasaka syndrome
      * Akesson syndrome
      * Aksu von Stockhausen syndrome
      * Al Awadi syndrome
      * Al Gazali Aziz Salem syndrome
      * Al Gazali Donnai Mueller syndrome
      * Al Gazali Hirschsprung syndrome
      * Al Gazali Khidr Prem Chandran syndrome
      * Al Gazali Sabrinathan Nair syndrome
      * Alagille syndrome
      * Albers-Schonberg disease
      * Albinism
      * Albinism deafness syndrome
      * Albinism immunodeficiency
      * Albinism ocular late onset sensorineural deafness
      * Albinism oculocutaneous, Hermansky-Pudlak type
      * Albinism, minimal pigment type
      * Albrecht Schneider Belmont syndrome
      * Albright like syndrome
      * Albright's hereditary osteodystrophy
      * Alcohol antenatal infection
      * Aldolase A deficiency
      * Aldred syndrome
      * Aleukemic leukemia cutis
      * Alexander disease
      * Al-gazali syndrome
      * Alkaptonuria
      * Allain Babin Demarquez syndrome
      * Allan-Herndon-Dudley syndrome
      * Allanson Pantzar McLeod syndrome
      * Allergic angiitis
      * Allergic autoimmune thyroiditis
      * Allergic bronchopulmonary aspergillosis
      * Allergic encephalomyelitis
      * Aloi Tomasini Isaia syndrome
      * Alopecia areata
      * Alopecia congenita keratosis palmoplantaris
      * Alopecia contractures dwarfism mental retardation
      * Alopecia epilepsy oligophrenia syndrome of Moynahan
      * Alopecia hypogonadism extrapyramidal disorder
      * Alopecia immunodeficiency
      * Alopecia macular degeneration growth retardation
      * Alopecia mental retardation hypogonadism
      * Alopecia mental retardation syndrome
      * Alopecia totalis
      * Alopecia universalis
      * Alopecia universalis onychodystrophy vitiligo
      * Alopecia, epilepsy, pyorrhea, mental subnormality
      * Alpers disease
      * Alpers syndrome
      * Alpha 1-antitrypsin deficiency
      * Alpha-2 deficient collagen disease
      * Alpha-ketoglutarate dehydrogenase deficiency
      * Alpha-L-iduronidase deficiency
      * Alpha-mannosidosis type 1
      * Alpha-mannosidosis, type 2
      * Alpha-Thalassemia
      * Alpha-thalassemia-abnormal morphogenesis
      * Alport syndrome
      * Alport syndrome, dominant type
      * Alport syndrome, recessive type
      * Alsing syndrome
      * Alstrom syndrome
      * Alternating hemiplegia of childhood
      * Aluminium lung
      * Alveolar capillary dysplasia
      * Alveolar echinococcosis
      * Alveolar soft part sarcoma
      * Alveolitis, extrinsic allergic
      * Alves Castelo dos Santos syndrome
      * Alzheimer disease type 1
      * Alzheimer disease type 2
      * Alzheimer disease type 4
      * Alzheimer disease, familial
      * Alzheimer disease, familial, type 3
      * Alzheimer's disease without Neurofibrillary tangles
      * Amastia
      * Amaurosis congenita of Leber
      * Amaurosis congenita of Leber, type 1
      * Amaurosis congenita of Leber, type 2
      * Amaurosis congenita of Leber, type 5
      * Amaurosis congenita of Leber, type 9
      * Amaurosis fugax
      * Amaurosis hypertrichosis
      * Ambras syndrome
      * Amebiasis
      * Amelia cleft lip palate hydrocephalus iris coloboma
      * Amelogenesis imperfecta
      * Amelogenesis Imperfecta hypomaturation type
      * Amelogenesis imperfecta local hypoplastic form
      * Amelogenesis imperfecta nephrocalcinosis
      * Amelogenesis imperfecta pigmented hypomaturation type
      * Amelogenesis imperfecta, hypoplastic type, IG
      * Amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 1
      * Amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2
      * Ameloonychohypohidrotic syndrome
      * Aminoacidopathies
      * Aminoaciduria
      * Aminoacylase 1 deficiency
      * Amish lethal microcephaly
      * Amniotic band syndrome
      * Ampola syndrome
      * Amyloid angiopathy
      * Amyloid Neuropathies
      * Amyloid polyneuropathy, transthyretin related
      * Amyloidosis
      * Amyloidosis of gingiva and conjunctiva mental retardation
      * Amyloidosis, familial visceral
      * Amyopathic dermatomyositis
      * Amyoplasia
      * Amyoplasia mandibulofacial dysostosis
      * Amyotonia congenita
      * Amyotrophic lateral sclerosis
      * Amyotrophic lateral sclerosis type 2
      * Amyotrophic lateral sclerosis, type 6
      * Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1
      * Amyotrophy, monomelic
      * Anal cancer
      * Anal sphincter dysplasia
      * Anaplastic large cell lymphoma
      * Anaplastic small cell lymphoma
      * Anauxetic dysplasia
      * Ancylostoma duodenale
      * Andersen Tawil syndrome
      * Androgen insensitivity syndrome
      * Androgen insensitivity syndrome, partial
      * Androgenetic alopecia
      * Anemia, Diamond-Blackfan, 2
      * Anemia, Diamond-Blackfan, 3
      * Anemia, hereditary spherocytic hemolytic
      * Anemia, hypochromic microcytic
      * Anemia, Hypoplastic, Congenital
      * Anemia, Sideroblastic
      * Anemia, sideroblastic spinocerebellar ataxia
      * Anencephaly
      * Anencephaly and spina bifida X-linked
      * Aneuploidy
      * Aneurysm of sinus of Valsalva
      * Aneurysm, intracranial berry, 2
      * Aneurysmal bone cysts
      * Angel shaped phalangoepiphyseal dysplasia
      * Angelman syndrome
      * Angiofollicular ganglionic hyperplasia
      * Angiofollicular lymph hyperplasia
      * Angioimmunoblastic with dysproteinemia lymphadenopathy
      * Angiokeratoma mental retardation coarse face
      * Angioma hereditary neurocutaneous
      * Angioma serpiginosum, autosomal dominant
      * Angioma serpiginosum, X-linked
      * Angiomatosis encephalotrigeminal
      * Angiomatosis leptomeningeal capillary - venous
      * Angiomatosis systemic cystic Seip syndrome
      * Angiomatosis, diffuse corticomeningeal, of Divry and Van Bogaert
      * Angiomyomatous Hamartoma
      * Angiosarcoma of the breast
      * Angiosarcoma of the liver
      * Angiosarcoma of the scalp
      * Angiostrongyliasis
      * Angiotensin renin aldosterone hypertension
      * Anguillulosis
      * Aniridia
      * Aniridia absent patella
      * Aniridia ataxia renal agenesis psychomotor retardation
      * Aniridia cerebellar ataxia mental deficiency
      * Aniridia mental retardation syndrome
      * Aniridia ptosis mental retardation obesity familial
      * Aniridia renal agenesis psychomotor retardation
      * Aniridia, sporadic
      * Aniridia, type 2
      * Anisakiasis
      * Ankle defects short stature
      * Ankyloblepharon filiforme adnatum cleft palate
      * Ankyloblepharon filiforme imperforate anus
      * Ankyloglossia heterochromia clasped thumbs
      * Ankylosing spondylarthritis
      * Ankylosis of teeth
      * Ankylostomiasis
      * Annular constricting bands
      * Annular pancreas
      * Annuloaortic ectasia
      * Anodontia
      * Anonychia congenita
      * Anonychia ectrodactyly
      * Anonychia microcephaly
      * Anonychia onychodystrophy
      * Anonychia-onychodystrophy with brachydactyly type B and ectrodactyly
      * Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges
      * Anophthalmia cleft lip palate hypothalamic disorder
      * Anophthalmia cleft palate micrognathia
      * Anophthalmia esophageal atresia cryptorchidism
      * Anophthalmia megalocornea cardiopathy skeletal anomalies
      * Anophthalmia microcephaly hypogonadism
      * Anophthalmia plus syndrome
      * Anophthalmia short stature obesity
      * Anophthalmia with pulmonary hypoplasia
      * Anophthalmos with limb anomalies
      * Anorchia
      * Anorectal atresia
      * Anotia
      * Anotia facial palsy cardiac defect
      * Ansell Bywaters Elderking syndrome
      * Anterior horn disease
      * Anterior pituitary insufficiency, familial
      * Anterior polar cataract 2
      * Anterior segment mesenchymal dysgenesis
      * Anterior spinal artery stroke
      * Anthrax
      * Anti-factor 8 autoimmunization
      * Antigen-peptide-transporter 2 deficiency
      * Anti-HLA hyperimmunization
      * Antihypertensive drugs antenatal infection
      * Antiphospholipid syndrome
      * Anti-plasmin deficiency, congenital
      * Antisocial personality disorder
      * Antisynthetase syndrome
      * Antithrombin deficiency type 2
      * Antithrombin deficiency, congenital
      * Antley-Bixler syndrome
      * Anton's syndrome
      * Aorta-pulmonary artery fistula
      * Aortic aneurysm, familial thoracic 3
      * Aortic aneurysm, familial thoracic 4
      * Aortic arch anomaly with peculiar facies and mental retardation
      * Aortic arch interruption
      * Aortic arches defect
      * Aortic coarctation
      * Aortic dissection lentiginosis
      * Aortic supravalvular stenosis
      * Aortic valve stenosis
      * Aortic valves stenosis of the child
      * Aortic window
      * Apert like polydactyly syndrome
      * Apert syndrome
      * Aphakia, congenital primary
      * Aphalangia syndactyly microcephaly
      * Aphthous stomatitis
      * Aplasia cutis autosomal recessive
      * Aplasia cutis congenita
      * Aplasia cutis congenita dominant
      * Aplasia cutis congenita epibulbar dermoids
      * Aplasia cutis congenita intestinal lymphangiectasia
      * Aplasia cutis congenita of limbs recessive
      * Aplasia cutis congenita recessive
      * Aplasia cutis myopia
      * Aplasia/hypoplasia of pelvis, femur, fibula, and ulna with abnormal digits and nails
      * Aplastic anemia
      * Apo A-I deficiency
      * Apolipoprotein C 2I deficiency
      * Apparent mineralocorticoid excess
      * Apraxia
      * Apraxia manual
      * Apraxia, oculomotor, Cogan type
      * APUDoma
      * Arachindonic acid, absence of
      * Arachnodactyly ataxia cataract aminoaciduria mental retardation
      * Arachnodactyly mental retardation dysmorphism
      * Arachnoiditis
      * Arakawa syndrome 1
      * Arakawa's syndrome 2
      * Arbovirosis
      * AREDYLD
      * Arena syndrome
      * Arginase deficiency
      * Argininosuccinic aciduria
      * Arhinia, choanal atresia, and microphthalmia
      * Arima syndrome
      * Arnold Stickler Bourne syndrome
      * Arnold-Chiari malformation
      * Arnold-Chiari malformation, type 1
      * Arnold-Chiari malformation, type 2
      * Arnold-Chiari malformation, type 3
      * Arnold-Chiari malformation, type 4
      * Aromatase deficiency
      * Aromatic amino acid decarboxylase deficiency
      * Arrhinia
      * Arrhythmogenic right ventricular dysplasia
      * Arroyo Garcia Cimadevilla syndrome
      * Arterial calcification of infancy
      * Arterial dysplasia
      * Arterial tortuosity
      * Arthritis short stature deafness
      * Arthrogryposis
      * Arthrogryposis and ectodermal dysplasia
      * Arthrogryposis due to muscular dystrophy
      * Arthrogryposis epileptic seizures migrational brain disorder
      * Arthrogryposis IUGR thoracic dystrophy
      * Arthrogryposis like disorder
      * Arthrogryposis multiplex congenita
      * Arthrogryposis multiplex congenita CNS calcification
      * Arthrogryposis multiplex congenita distal
      * Arthrogryposis multiplex congenita neurogenic type
      * Arthrogryposis multiplex congenita pulmonary hypoplasia
      * Arthrogryposis multiplex congenita type 2B
      * Arthrogryposis multiplex congenita whistling face
      * Arthrogryposis multiplex congenita, distal type 1
      * Arthrogryposis multiplex congenita, distal type 2
      * Arthrogryposis multiplex congenita, distal, X-linked
      * Arthrogryposis multiplex with deafness, inguinal hernias, and early death
      * Arthrogryposis ophthalmoplegia retinopathy
      * Arthrogryposis renal dysfunction cholestasis syndrome
      * Arthrogryposis spinal muscular atrophy
      * Arthrogryposis, distal, type 2b
      * Arthrogryposis, distal, type 2E
      * Arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies
      * Arthrogryposis-like hand anomaly and sensorineural deafness
      * Arthropathy, progressive pseudorheumatoid, of childhood
      * Arts syndrome
      * Asbestosis
      * Ascher's Syndrome
      * Asherman's syndrome
      * Aspartylglycosaminuria
      * Aspergillosis
      * Aspergillus niger infection
      * Asphyxia neonatorum
      * Asrar Facharzt Haque syndrome
      * Asternia
      * Asternia with Cardiac, Diaphragmatic, and Abdominal defects
      * Asthenia
      * Astley-Kendall syndrome
      * Astrocytoma
      * Asymmetric septal hypertrophy
      * Ataxia telangiectasia variant V1
      * Ataxia with vitamin E deficiency
      * Ataxia-deafness syndrome
      * Ataxia-Telangiectasia
      * Atelosteogenesis type 2
      * Atelosteogenesis, type 1
      * Athabaskan brainstem dysgenesis
      * Athetosis
      * Atkin syndrome
      * Atlanto-Axial Fusion
      * Atransferrinemia
      * Atresia of small intestine
      * Atrial fibrillation, familial 1
      * Atrial myxoma, familial
      * Atrial septal defect 2
      * Atrioventricular septal defect
      * Atrophoderma of Pierini and Pasini
      * Atrophodermia vermiculata
      * ATR-X syndrome
      * Attenuated FAP
      * Atypical hemolytic uremic syndrome
      * Atypical lipodystrophy
      * Atypical mole syndrome
      * Atypical mycobacteriosis, familial
      * Auditory neuropathy
      * Auditory perceptual disorder
      * Aughton syndrome
      * Auralcephalosyndactyly
      * Auriculo-condylar syndrome
      * Auriculoosteodysplasia
      * Ausems Wittebol-Post Hennekam syndrome
      * Autoimmune enteropathy
      * Autoimmune hemolytic anemia
      * Autoimmune hepatitis
      * Autoimmune Inner Ear disease
      * Autoimmune lymphoproliferative syndrome
      * Autoimmune myocarditis
      * Autoimmune oophoritis
      * Autoimmune peripheral neuropathy
      * Autoimmune polyendocrinopathy syndrome, type 1
      * Autoimmune progesterone dermatitis
      * Autosomal dominant compelling helio ophthalmic outburst syndrome
      * Autosomal dominant partial epilepsy with auditory features
      * Autosomal recessive nonsyndromic congenital nuclear cataract
      * Avasthey syndrome
      * Axenfeld-Rieger anomaly with cardiac defects and sensorineural hearing loss
      * Axial mesodermal dysplasia spectrum
      * Axial osteomalacia
      * Axial osteosclerosis
      * Ayazi syndrome



      B

      * Baber's syndrome
      * Babesiosis
      * Baby rattle pelvic dysplasia
      * Bacterial endocarditis
      * Bacterial meningitis
      * BAER
      * Baetz-Greenwalt syndrome
      * Bagatelle Cassidy syndrome
      * Bahemuka Brown syndrome
      * Baker Vinters syndrome
      * Baker-Winegrad disease
      * Balantidiasis
      * Ballard syndrome
      * Balo disease
      * Balo's concentric sclerosis
      * Bamforth syndrome
      * BANF acoustic neurinoma
      * Bangstad syndrome
      * Banki syndrome
      * Bannayan-Zonana syndrome
      * Banti's syndrome
      * Bantu siderosis
      * Baraitser Brett Piesowicz syndrome
      * Baraitser Rodeck Garner syndrome
      * Barakat syndrome
      * Barber Say syndrome
      * Bardet-Biedl syndrome 1
      * Bardet-Biedl syndrome 10
      * Bardet-Biedl syndrome 11
      * Bardet-Biedl syndrome 12
      * Bardet-Biedl syndrome 2
      * Bardet-Biedl syndrome 3
      * Bardet-Biedl syndrome 4
      * Bardet-Biedl syndrome 5
      * Bardet-Biedl syndrome 6
      * Bardet-Biedl syndrome 7
      * Bardet-Biedl syndrome 8
      * Bardet-Biedl syndrome 9
      * Bare lymphocyte syndrome

      * Bare lymphocyte syndrome 2
      * Baritosis
      * Barnicoat Baraitser syndrome
      * Barre Lieou syndrome
      * Barth syndrome
      * Bartsocas Papa syndrome
      * Bartter syndrome, antenatal , type 2
      * Bartter syndrome, antenatal type 1
      * Bartter syndrome, type 3
      * Bartter's syndrome
      * Basal cell carcinoma, infundibulocystic
      * Basal cell carcinoma, multiple
      * Basal cell nevus anodontia abnormal bone mineralization
      * Basal ganglia calcification, idiopathic 2
      * Basal ganglia disease, biotin-responsive
      * Basan syndrome
      * Basaran Yilmaz syndrome
      * Basedow's coma
      * Basilar artery migraines
      * Basilar impression primary
      * Bassoe syndrome
      * Battaglia Neri syndrome
      * Batten Turner muscular dystrophy
      * Baughman syndrome
      * Bazex-Dupre-Christol syndrome
      * Bazopoulou Kyrkanidou syndrome
      * B-cell lymphomas
      * Bd syndrome
      * Beardwell syndrome
      * Bebe Collodion syndrome
      * Becker's muscular dystrophy
      * Becker's nevus
      * Beckwith-Wiedemann syndrome
      * Bednar's tumor
      * Beemer Ertbruggen syndrome
      * Behcet syndrome
      * Behr syndrome
      * Behrens Baumann Dust syndrome
      * Bejel
      * Bellini Chiumello Rinoldi syndrome
      * Bell's palsy
      * Ben Ari Shuper Mimouni syndrome
      * Benallegue Lacete syndrome
      * Bencze syndrome
      * Benign angiitis of the central nervous system
      * Benign astrocytoma
      * Benign autosomal dominant myopathy
      * Benign congenital hypotonia
      * Benign essential blepharospasm
      * Benign essential tremor syndrome
      * Benign familial hematuria
      * Benign familial infantile epilepsy
      * Benign familial neonatal-infantile seizures
      * Benign lymphoma
      * Benign mucosal pemphigoid
      * Benign paroxysmal positional vertigo
      * Bentham Driessen Hanveld syndrome
      * Berger disease
      * Beriberi
      * Berk-Tabatznik syndrome
      * Berlin Breakage syndrome
      * Berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification
      * Berylliosis
      * Best vitelliform macular dystrophy
      * Beta ketothiolase deficiency
      * Beta-galactosidase-1 deficiency
      * Beta-sarcoglycanopathy
      * Beta-thalassemia
      * Bethlem myopathy
      * Bhaskar Jagannathan syndrome
      * Bidirectional tachycardia
      * Biemond syndrome
      * Biemond syndrome type 1
      * Biemond syndrome type 2
      * Biermer disease
      * Bietti's crystalline dystrophy
      * Bifid nose
      * Bilateral renal agenesis dominant type
      * Bile acid synthesis defect, congenital, 1
      * Bile acid synthesis defect, congenital, 2
      * Bile acid synthesis defect, congenital, 4
      * Bile duct cancer, extrahepatic
      * Bile duct cysts
      * Biliary atresia
      * Biliary atresia, extrahepatic
      * Biliary atresia, intrahepatic, non syndromic form
      * Biliary atresia, intrahepatic, syndromic form
      * Biliary cirrhosis
      * Biliary hypoplasia
      * Biliary malformation renal tubular insufficiency
      * Biliary tract cancer
      * Bilirubin induced brain injury in the newborn
      * Billet Bear syndrome
      * Binswanger's disease
      * Biotinidase deficiency
      * Bird headed dwarfism Montreal type
      * Birdshot chorioretinopathy
      * Birt-Hogg-Dube syndrome
      * Bixler Christian Gorlin syndrome
      * Bjornstad syndrome
      * Bladder neoplasm
      * Blaichman syndrome
      * Blastoma
      * Blastomycosis
      * Blepharo facio skeletal syndrome
      * Blepharo naso facial syndrome Van maldergem type
      * Blepharophimosis
      * Blepharophimosis nasal groove growth retardation
      * Blepharophimosis ptosis esotropia syndactyly short
      * Blepharophimosis syndrome Ohdo type
      * Blepharophimosis syndrome type 1
      * Blepharophimosis syndrome type 2
      * Blepharophimosis with ptosis, syndactyly, and short stature
      * Blepharoptosis aortic anomaly
      * Blepharoptosis cleft palate ectrodactyly dental anomalies
      * Blepharoptosis myopia ectopia lentis
      * Blepharospasm
      * Blethen Wenick Hawkins syndrome
      * Blood coagulation disorders, inherited
      * Bloom syndrome
      * Blount disease
      * Blue cone monochromatism
      * Blue diaper syndrome
      * Blue rubber bleb nevus
      * Bobble-head doll syndrome
      * BOD syndrome
      * Boerhaave syndrome
      * Bone dysplasia Azouz type
      * Bone dysplasia corpus callosum agenesis
      * Bone dysplasia lethal Holmgren type
      * Bone dysplasia Moore type
      * Bone fragility craniosynostosis proptosis hydrocephalus
      * Bone marrow failure neurologic abnormalities
      * Bone Marrow failure syndromes
      * Bone neoplasms
      * Bonneau-Beaumont syndrome
      * Bonneman Meinecke Reich syndrome
      * Bonnemann Meinecke syndrome
      * Book syndrome
      * Boomerang dysplasia
      * Bor-Duane hydrocephalus contiguous gene syndrome
      * Borjeson-Forssman-Lehmann syndrome
      * Bork Stender Schmidt syndrome
      * Borreliosis
      * Borrone Di Rocco Crovato syndrome
      * Boscherini Galasso Manca Bitti syndrome
      * Bosma Henkin Christiansen syndrome
      * Bothriocephalosis
      * Botulism
      * Boucher Neuhauser syndrome
      * Boudhina Yedes Khiari syndrome
      * Bourneville syndrome
      * Bourneville syndrome, type 1
      * Bourneville syndrome, type 2
      * Bowen syndrome
      * Bowen-Conradi syndrome
      * Bowenoid papulosis
      * Bowen's disease
      * Bowing congenital short bones
      * Bowing of legs, anterior, with dwarfism
      * Bowing of long bones congenital
      * Boylan Dew Greco syndrome
      * Brachioskeletogenital syndrome
      * Brachman-de Lange syndrome
      * Brachycephalofrontonasal dysplasia
      * Brachydactylous dwarfism Mseleni type
      * Brachydactyly absence of distal phalanges
      * Brachydactyly anonychia
      * Brachydactyly clinodactyly
      * Brachydactyly dwarfism mental retardation
      * Brachydactyly elbow wrist dysplasia
      * Brachydactyly long thumb type
      * Brachydactyly mesomelia mental retardation heart defects
      * Brachydactyly nystagmus cerebellar ataxia
      * Brachydactyly preaxial with hallux varus and thumb abduction
      * Brachydactyly scoliosis carpal fusion
      * Brachydactyly small stature face anomalies
      * Brachydactyly Smorgasbord type
      * Brachydactyly tibial hypoplasia
      * Brachydactyly type a1
      * Brachydactyly type A2
      * Brachydactyly type A3
      * Brachydactyly type A5 nail dysplasia
      * Brachydactyly type A6
      * Brachydactyly type a7
      * Brachydactyly type B
      * Brachydactyly type C
      * Brachydactyly type E
      * Brachydactyly types B and E combined
      * Brachydactyly with hypertension
      * Brachymesomelia renal syndrome
      * Brachymesophalangy 2 and 5
      * Brachymesophalangy type 2
      * Brachymetapody anodontia hypotrichosis albinoidism
      * Brachymorphism onychodysplasia dysphalangism syndrome
      * Brachyolmia
      * Brachyolmia, recessive Hobaek type
      * Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia
      * Brachytelephalangy characteristic facies Kallmann
      * Braddock Jones Superneau syndrome
      * Bradykinesia
      * Brain Stem neoplasms
      * Brain tumor, adult
      * Branchial arch defects
      * Branchial arch syndrome X-linked
      * Branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and
      * Branchio oculo facial syndrome Hing type
      * Branchio-oculo-facial syndrome
      * Branchiootic syndrome
      * Branchiootorenal syndrome 1
      * Branchiootorenal syndrome 2
      * Brenner tumor of ovary
      * Brenner tumor of the vagina
      * Bright’s Disease
      * Brittle bone syndrome lethal type
      * Broad beta disease
      * Broad-betalipoproteinemia
      * Brody myopathy
      * Bronchiectasis oligospermia
      * Bronchiolitis obliterans organizing pneumonia
      * Bronchiolitis obliterans with obstructive pulmonary disease
      * Bronchogenic cyst
      * Bronchopulmonary amyloidosis
      * Bronchopulmonary dysplasia
      * Brown syndrome
      * Brown-Sequard syndrome
      * Brown-Vialetto-Van laere syndrome
      * Brucellosis
      * Bruck syndrome 1
      * Bruck syndrome, 2
      * Brugada syndrome
      * Brunoni syndrome
      * Bruton type agammaglobulinemia
      * Bruyn Scheltens syndrome
      * Budd-Chiari syndrome
      * Buerger's disease
      * Bulbospinal amyotrophy, X-linked
      * Bull Nixon syndrome
      * Bullous dystrophy macular type
      * Bullous erythroderma ichthyosiformis congenita of Brocq
      * Bullous pemphigoid
      * Buntinx Lormans Martin syndrome
      * Burkitt's lymphoma
      * Burn Goodship syndrome
      * Burnett Schwartz Berberian syndrome
      * Burning mouth syndrome
      * Burning mouth syndrome- Type 3
      * Burn-Mckeown syndrome
      * Buruli ulcer
      * Buschke Lowenstein Tumor
      * Buschke Ollendorff syndrome
      * Bustos Simosa Pinto Cisternas syndrome
      * Buttiens Fryns syndrome
      * Butyrylcholinesterase deficiency
      * Byssinosis

    2. #2
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      * C syndrome
      * CACH syndrome
      * CADASIL
      * Cafe au lait spots, multiple
      * Caffey disease
      * CAHMR syndrome
      * Calabro syndrome
      * Calcifying Epithelial Odontogenic Tumor
      * Calciphylaxis
      * Calloso-genital dysplasia
      * Calvarial hyperostosis
      * Camera Marugo Cohen syndrome
      * CAMFAK syndrome
      * Campomelia Cumming type
      * Campomelic dysplasia
      * Camptobrachydactyly
      * Camptocormism
      * Camptodactyly joint contractures and facial skeletal dysplasia
      * Camptodactyly syndrome Guadalajara type 1
      * Camptodactyly syndrome Guadalajara type 2
      * Camptodactyly taurinuria
      * Camptodactyly vertebral fusion
      * Camptodactyly, fibrous tissue hyperplasia, and skeletal dysplasia
      * Camptodactyly, tall stature, and hearing loss syndrome
      * Camptodactyly-ichthyosis syndrome
      * Camptomelic syndrome long limb type
      * Camurati Engelmann disease, type 2
      * Camurati-Engelmann disease
      * Canavan disease
      * Candidiasis familial chronic mucocutaneous, autosomal recessive
      * CANOMAD syndrome
      * Cantalamessa Baldini Ambrosi syndrome
      * Cantu Sanchez-Corona Fragoso syndrome
      * Cantu Sanchez-Corona Garcia-cruz syndrome
      * Cantu Sanchez-Corona Hernandez syndrome
      * Cantu syndrome
      * Capillary leak syndrome with monoclonal gammopathy
      * Capillary venous leptomeningeal angiomatosis
      * Carbamoyl phosphate synthase 1 deficiency
      * Carbamoyl-phosphate synthase I deficiency disease (ornithine carbamoyl phosphate deficiency)
      * Carbon baby syndrome
      * Carcinoid syndrome
      * Carcinoid tumor
      * Carcinoma of the vocal tract
      * Carcinoma, squamous cell
      * Carcinoma, squamous cell of head and neck
      * Cardiac and laterality defects
      * Cardiac conduction defect, familial
      * Cardiac diverticulum
      * Cardiac hydatid cysts with intracavitary expansion
      * Cardiac valvular dysplasia, X-linked
      * Cardioauditory syndrome of Sanchez Cascos
      * Cardiocranial syndrome
      * Cardiofacial syndrome short limbs
      * Cardiofaciocutaneous syndrome
      * Cardiogenital syndrome
      * Cardiomelic syndrome Stratton Koehler type
      * Cardiomyopathy cataract hip spine disease
      * Cardiomyopathy diabetes deafness
      * Cardiomyopathy dilated with conduction defect type 1
      * Cardiomyopathy dilated with conduction defect type 2
      * Cardiomyopathy dilated with Woolly hair and keratoderma
      * Cardiomyopathy due to anthracyclines
      * Cardiomyopathy hearing loss type t RNA lysine gene mutation
      * Cardiomyopathy hypogonadism collagenoma syndrome
      * Cardiomyopathy hypogonadism metabolic anomalies
      * Cardiomyopathy spherocytosis
      * Cardiomyopathy, familial dilated
      * Cardiomyopathy, fatal fetal, due to myocardial calcification
      * Cardiomyopathy, infantile histiocytoid
      * Cardiomyopathy, X-linked, fatal infantile
      * Cardioskeletal myopathy-neutropenia
      * Cardiospasm
      * Carnevale Canun Mendoza syndrome
      * Carnevale Hernandez Castillo syndrome
      * Carnevale syndrome
      * Carney syndrome
      * Carnitine palmitoyl transferase 1A deficiency
      * Carnitine palmitoyl transferase 2 deficiency
      * Carnitine transporter deficiency
      * Carnitine-acylcarnitine translocase deficiency
      * Carnosinase deficiency
      * Carnosinemia
      * Caroli disease
      * Carpal deformity migrognathia microstomia
      * Carpenter Hunter type
      * Carpenter syndrome
      * Carpo tarsal osteolysis recessive
      * Carpotarsal osteochondromatosis
      * Carrington syndrome
      * Cartilage hair hypoplasia like syndrome
      * Cartilage-hair hypoplasia
      * Cartilaginous neoplasms
      * Cartwright Nelson Fryns syndrome
      * Caspase-8 deficiency
      * Castro Gago Pombo Novo syndrome
      * Cat Eye syndrome
      * Cat Rodrigues syndrome
      * Cat Scratch Disease
      * Catamenial pneumothorax
      * Cataplexy
      * Cataract and cardiomyopathy
      * Cataract and congenital ichthyosis
      * Cataract anterior polar dominant
      * Cataract ataxia deafness
      * Cataract congenital autosomal dominant
      * Cataract congenital dominant non nuclear
      * Cataract congenital Volkmann type
      * Cataract dental syndrome
      * Cataract Hutterite type
      * Cataract hypertrichosis mental retardation
      * Cataract mental retardation hypogonadism
      * Cataract microcornea syndrome
      * Cataract microphthalmia septal defect
      * Cataract skeletal anomalies
      * Cataract, alopecia, sclerodactyly
      * Cataract, autosomal recessive congenital 2
      * Cataract, congenital, with microcornea or slight microphthalmia
      * Cataract, congenital, with microphthalmia
      * Cataract, microphthalmia and nystagmus
      * Cataract, posterior polar, 1
      * Cataract, posterior polar, 5
      * Cataract, total congenital
      * Cataract, zonular
      * Cataract,posterior polar, 3
      * Cataract,posterior polar, 4
      * Cataract-glaucoma
      * Cataracts, ataxia, short stature, and mental retardation
      * Catastrophic Antiphospholipid Syndrome
      * Catatrichy
      * Catecholamine hypertension
      * Catel Manzke syndrome
      * Caudal appendage deafness
      * Caudal duplication
      * Caudal regression syndrome
      * Cavernous lymphangioma
      * Cayler cardiofacial syndrome
      * CCA syndrome
      * Ccge syndrome
      * CD3 deficiency
      * CD4 deficiency
      * CDG syndrome type 1A
      * CDG syndrome type 1B
      * CDG syndrome type 1C
      * CDG syndrome type 2
      * CDG syndrome type 3
      * CDG syndrome type 4
      * CDK4 linked melanoma
      * Cecato De lima Pinheiro syndrome
      * Celiac disease epilepsy occipital calcifications
      * Cennamo Gangemi syndrome
      * Central core disease
      * Central nervous system lymphoma, primary
      * Central nervous system protozoal infections
      * Central pontine myelinolysis
      * Central serous chorioretinopathy
      * Centromeric instability immunodeficiency syndrome
      * Centronuclear myopathy, congenital
      * Centrotemporal epilepsy
      * Cephalopolysyndactyly
      * Ceramide trihexosidosis
      * Cercarial Dermatitis
      * Cerebellar agenesis
      * Cerebellar ataxia
      * Cerebellar ataxia ectodermal dysplasia
      * Cerebellar ataxia infantile with progressive external ophthalmoplegia
      * Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss
      * Cerebellar ataxia, dominant pure
      * Cerebellar degeneration
      * Cerebellar degeneration, subacute
      * Cerebellar hypoplasia
      * Cerebellar hypoplasia tapetoretinal degeneration
      * Cerebellar hypoplasia with endosteal sclerosis
      * Cerebellar parenchymal degeneration
      * Cerebelloolivary atrophy
      * Cerebelloparenchymal disorder 3
      * Cerebellum agenesis hydrocephaly
      * Cerebral Amyloid Angiopathy, Familial
      * Cerebral aneurysm
      * Cerebral astrocytoma, adult
      * Cerebral calcification cerebellar hypoplasia
      * Cerebral calcifications opalescent teeth phosphaturia
      * Cerebral cavernous hemangioma
      * Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
      * Cerebral gigantism jaw cysts
      * Cerebral hemorrhage with amyloidosis, hereditary, Dutch type
      * Cerebral palsy, spastic, diplegic
      * Cerebral sarcoma
      * Cerebral ventricle neoplasm
      * Cerebro facio thoracic dysplasia
      * Cerebro oculo dento auriculo skeletal syndrome
      * Cerebro oculo genital syndrome
      * Cerebro oculo skeleto renal syndrome
      * Cerebro reno digital syndrome
      * Cerebro-costo-mandibular syndrome
      * Cerebro-oculo-facio-skeletal syndrome
      * Cerebroretinal vasculopathy
      * Cerebrospinal fluid leak
      * Cerebrotendinous xanthomatosis
      * Ceroid lipofuscinosis, neuronal
      * Ceroid lipofuscinosis, neuronal 1, infantile
      * Ceroid lipofuscinosis, neuronal 2, late infantile type
      * Ceroid lipofuscinosis, neuronal 3, Juvenile
      * Ceroid lipofuscinosis, neuronal 4
      * Ceroid lipofuscinosis, neuronal 5
      * Ceroid lipofuscinosis, neuronal 6, late infantile
      * Ceroid lipofuscinosis, neuronal 8
      * Ceroid lipofuscinosis, neuronal 9
      * Ceroid storage disease
      * Cerulean cataract
      * Cervical hypertrichosis neuropathy
      * Cervical hypertrichosis peripheral neuropathy
      * Cervical intraepithelial neoplasia
      * Cervical ribs sprengel anomaly anal atresia urethral obstruction
      * Cervical vertebral fusion
      * Cervicooculoacoustic syndrome
      * Chagas disease
      * Chalazion
      * Chancroid
      * Chandler's syndrome
      * CHANDS
      * Chang Davidson Carlson syndrome
      * Chaotic atrial tachycardia
      * Char syndrome
      * Charcot Marie Tooth disease
      * Charcot Marie Tooth disease deafness recessive type
      * Charcot Marie Tooth type 1 aplasia cutis congenita
      * Charcot-Marie-Tooth disease and deafness
      * Charcot-Marie-Tooth disease with ptosis and parkinsonism
      * Charcot-Marie-Tooth disease with pyramidal features, autosomal dominant
      * Charcot-Marie-Tooth disease, dominant intermediate 1
      * Charcot-Marie-Tooth disease, dominant intermediate 2
      * Charcot-Marie-Tooth disease, dominant intermediate 3
      * Charcot-Marie-Tooth disease, neuronal, type A
      * Charcot-Marie-Tooth disease, neuronal, type B
      * Charcot-Marie-Tooth disease, neuronal, type D
      * Charcot-Marie-Tooth disease, Type 1A
      * Charcot-Marie-Tooth disease, Type 1B
      * Charcot-Marie-Tooth disease, Type 1C
      * Charcot-Marie-Tooth disease, Type 1D
      * Charcot-Marie-Tooth disease, Type 1E
      * Charcot-Marie-Tooth disease, Type 1F
      * Charcot-Marie-Tooth disease, Type 2A
      * Charcot-Marie-Tooth disease, Type 2B
      * Charcot-Marie-Tooth disease, Type 2B1
      * Charcot-Marie-Tooth disease, Type 2B2
      * Charcot-Marie-Tooth disease, Type 2C
      * Charcot-Marie-Tooth disease, Type 2D
      * Charcot-Marie-Tooth disease, Type 2E
      * Charcot-Marie-Tooth disease, Type 2F
      * Charcot-Marie-Tooth disease, Type 2G
      * Charcot-Marie-Tooth disease, Type 2H
      * Charcot-Marie-Tooth disease, Type 2I
      * Charcot-Marie-Tooth disease, Type 2J
      * Charcot-Marie-Tooth disease, Type 2K
      * Charcot-Marie-Tooth disease, Type 4A
      * Charcot-Marie-Tooth disease, Type 4B1
      * Charcot-Marie-Tooth disease, Type 4B2
      * Charcot-Marie-Tooth disease, Type 4B2, with early-onset glaucoma
      * Charcot-Marie-Tooth disease, Type 4C
      * Charcot-Marie-Tooth disease, Type 4E
      * Charcot-Marie-Tooth disease, X-linked recessive, 2
      * Charcot-Marie-Tooth disease, X-linked recessive, 3
      * Charcot-Marie-Tooth disease, X-linked, 1
      * CHARGE syndrome
      * Charlie M syndrome
      * Chavany-Brunhes syndrome
      * Chediak-Higashi syndrome
      * Cheilitis glandularis
      * Chemke Oliver Mallek syndrome
      * Cherubism
      * Chiari-Frommel syndrome
      * Chicken pox
      * Chikungunya
      * CHILD syndrome ichthyosis
      * Childhood disintegrative disorder
      * Childhood-onset cerebral X-linked adrenoleukodystrophy
      * Childhood-Onset Schizophrenia
      * Chitayat Haj Chahine syndrome
      * Chitayat Meunier Hodgkinson syndrome
      * Chitayat Moore Del Bigio syndrome
      * Chitty Hall Baraitser syndrome
      * Chitty Hall Webb syndrome
      * Choanal atresia deafness cardiac defects dysmorphia
      * Cholecystitis
      * Choledochal cyst, hand malformation
      * Cholemia, familial
      * Cholera
      * Cholestasis
      * Cholestasis pigmentary retinopathy cleft palate
      * Cholestasis, benign recurrent intrahepatic 1
      * Cholestasis, benign recurrent intrahepatic 2
      * Cholestasis, intrahepatic of pregnancy
      * Cholestasis, progressive familial intrahepatic 1
      * Cholestasis, progressive familial intrahepatic 2
      * Cholestasis, progressive familial intrahepatic 3
      * Cholestasis, progressive familial intrahepatic 4
      * Cholestatic jaundice renal tubular insufficiency
      * Cholesterol esterification disorder
      * Cholesterol pneumonia
      * Chondroblastoma (benign)
      * Chondrocalcinosis 1
      * Chondrocalcinosis 2
      * Chondrocalcinosis due to Apatite crystal deposition
      * Chondrodysplasia
      * Chondrodysplasia lethal recessive
      * Chondrodysplasia pseudohermaphrodism syndrome
      * Chondrodysplasia punctata
      * Chondrodysplasia punctata with steroid sulfatase deficiency
      * Chondrodysplasia punctata, brachytelephalangic
      * Chondrodysplasia punctata, humero-metacarpal type
      * Chondrodysplasia punctata, Sheffield type
      * Chondrodysplasia situs inversus imperforate anus polydactyly
      * Chondrodysplasia, acromesomelic, with genital anomalies
      * Chondrodysplasia, blomstrand type
      * Chondrodysplasia, Grebe type
      * Chondrodystrophy
      * Chondroectodermal dysplasia
      * Chondroma (benign)
      * Chondromalacia
      * Chondromatosis (benign)
      * Chondrosarcoma
      * Chordoma
      * Chorea familial benign
      * Chorea minor
      * Chorea, remitting with nystagmus and cataracts
      * Choreoacanthocytosis
      * Choreoacanthocytosis amyotrophic
      * Choriocarcinoma
      * Chorioretinal atrophy, progressive bifocal
      * Chorioretinitis
      * Chorioretinopathy dominant form microcephaly
      * Choroid plexus calcification with mental retardation
      * Choroid plexus cyst
      * Choroid Plexus neoplasms
      * Choroidal dystrophy central areolar
      * Choroideremia
      * Choroideremia hypopituitarism
      * Choroiditis
      * Choroiditis, serpiginous
      * Christian Demyer Franken syndrome
      * Christian Johnson Angenieta syndrome
      * Christian syndrome
      * Chromomycosis
      * Chromophil renal cell carcinoma
      * Chromophobe renal cell carcinoma
      * Chromosomal abnormalities
      * Chromosomal triplication
      * Chromosome 1 ring
      * Chromosome 1, 1p36 deletion syndrome
      * Chromosome 1, deletion q21 q25
      * Chromosome 1, duplication 1p21 p32
      * Chromosome 1, monosomy 1p
      * Chromosome 1, monosomy 1p22 p13
      * Chromosome 1, monosomy 1p31 p22
      * Chromosome 1, monosomy 1p32
      * Chromosome 1, monosomy 1p34 p32
      * Chromosome 1, monosomy 1q25 q32
      * Chromosome 1, monosomy 1q32 q42
      * Chromosome 1, monosomy 1q4
      * Chromosome 1, q42 11 q42 12 duplication
      * Chromosome 1, trisomy 1q32 qter
      * Chromosome 1, trisomy 1q42 qter
      * Chromosome 1, uniparental disomy 1q12 q21
      * Chromosome 10 ring
      * Chromosome 10, distal trisomy 10q
      * Chromosome 10, monosomy 10p
      * Chromosome 10, monosomy 10q
      * Chromosome 10, trisomy 10p
      * Chromosome 10, trisomy 10pter p13
      * Chromosome 10, uniparental disomy of
      * Chromosome 10p terminal deletion syndrome
      * Chromosome 11, deletion 11p
      * Chromosome 11, partial trisomy 11q
      * Chromosome 11;14 translocation
      * Chromosome 11p, partial deletion
      * Chromosome 11q partial deletion
      * Chromosome 11q trisomy
      * Chromosome 12 ring
      * Chromosome 12, 12p trisomy
      * Chromosome 12, trisomy 12q
      * Chromosome 12p deletion
      * Chromosome 12p partial deletion
      * Chromosome 13 ring
      * Chromosome 13, partial monosomy 13q
      * Chromosome 13p duplication
      * Chromosome 13q deletion
      * Chromosome 13q trisomy
      * Chromosome 13q-mosaicism
      * Chromosome 14 deletion
      * Chromosome 14 ring
      * Chromosome 14 trisomy
      * Chromosome 14, deletion 14q, partial duplication 14p
      * Chromosome 14, trisomy mosaic
      * Chromosome 14;16 translocation
      * Chromosome 14q, partial deletions
      * Chromosome 14q, proximal duplication
      * Chromosome 14q, terminal deletion
      * Chromosome 14q, terminal duplication
      * Chromosome 15 ring
      * Chromosome 15, distal trisomy 15q
      * Chromosome 15, trisomy mosaicism
      * Chromosome 15q duplication mosaicism
      * Chromosome 15q, partial deletion
      * Chromosome 15q, tetrasomy
      * Chromosome 15q, trisomy
      * Chromosome 16, trisomy
      * Chromosome 16, trisomy 16p
      * Chromosome 16, trisomy 16q
      * Chromosome 16, uniparental disomy
      * Chromosome 17 trisomy
      * Chromosome 17 deletion
      * Chromosome 17 ring
      * Chromosome 17, deletion 17q23 q24
      * Chromosome 17, duplication
      * Chromosome 17, trisomy 17p
      * Chromosome 17, trisomy 17p11 2
      * Chromosome 17, trisomy 17q22
      * Chromosome 18 deletion syndrome
      * Chromosome 18 mosaic monosomy
      * Chromosome 18 ring
      * Chromosome 18, deletion 18q23
      * Chromosome 18, tetrasomy 18p
      * Chromosome 18, trisomy 18p
      * Chromosome 18, trisomy 18q
      * Chromosome 18p deletion syndrome
      * Chromosome 19 ring
      * Chromosome 19 ring syndrome
      * Chromosome 19, trisomy 19q
      * Chromosome 1q deletion
      * Chromosome 1q, duplication 1q12 q21
      * Chromosome 2, monosomy 2p22
      * Chromosome 2, monosomy 2pter p24
      * Chromosome 2, monosomy 2q
      * Chromosome 2, monosomy 2q24
      * Chromosome 2, monosomy 2q37
      * Chromosome 2, trisomy 2p
      * Chromosome 2, trisomy 2p13 p21
      * Chromosome 2, trisomy 2pter p24
      * Chromosome 2, trisomy 2q
      * Chromosome 2, trisomy 2q37
      * Chromosome 20 ring
      * Chromosome 20, deletion 20p
      * Chromosome 20, duplication 20p
      * Chromosome 20, trisomy
      * Chromosome 21 monosomy
      * Chromosome 21 ring
      * Chromosome 21, monosomy 21q22
      * Chromosome 21, tetrasomy 21q
      * Chromosome 21, uniparental disomy of
      * Chromosome 22 ring
      * Chromosome 22 trisomy mosaic
      * Chromosome 22, microdeletion 22 q11
      * Chromosome 22, monosome mosaic
      * Chromosome 22, trisomy
      * Chromosome 22, trisomy q11 q13
      * Chromosome 22q deletion
      * Chromosome 22q13.3 deletion syndrome
      * Chromosome 2q37 deletion syndrome
      * Chromosome 3 duplication syndrome
      * Chromosome 3, monosomy 3p
      * Chromosome 3, monosomy 3p14 p11
      * Chromosome 3, monosomy 3p2
      * Chromosome 3, monosomy 3p25
      * Chromosome 3, monosomy 3q13
      * Chromosome 3, monosomy 3q21 23
      * Chromosome 3, monosomy 3q27
      * Chromosome 3, trisomy 3p
      * Chromosome 3, trisomy 3p25
      * Chromosome 3, trisomy 3q
      * Chromosome 3, trisomy 3q13 2 q25
      * Chromosome 3, Trisomy 3q2
      * Chromosome 4 ring syndrome
      * Chromosome 4 short arm deletion
      * Chromosome 4, monosomy 4p14 p16
      * Chromosome 4, monosomy 4q
      * Chromosome 4, monosomy 4q32
      * Chromosome 4, monosomy distal 4q
      * Chromosome 4, partial trisomy distal 4q
      * Chromosome 4, Trisomy 4p
      * Chromosome 4, trisomy 4q
      * Chromosome 4, trisomy 4q21
      * Chromosome 4, trisomy 4q25 qter
      * Chromosome 5, monosomy 5q35
      * Chromosome 5, trisomy 5p
      * Chromosome 5, trisomy 5pter p13 3
      * Chromosome 5, trisomy 5q
      * Chromosome 5, uniparental disomy
      * Chromosome 6 ring syndrome
      * Chromosome 6, deletion 6q13 q15
      * Chromosome 6, monosomy 6p23
      * Chromosome 6, monosomy 6q
      * Chromosome 6, monosomy 6q1
      * Chromosome 6, monosomy 6q2
      * Chromosome 6, partial trisomy 6q
      * Chromosome 6, trisomy 6p
      * Chromosome 6, trisomy 6q
      * Chromosome 7 ring syndrome
      * Chromosome 7, monosomy
      * Chromosome 7, monosomy 7q2
      * Chromosome 7, monosomy 7q21
      * Chromosome 7, monosomy 7q3
      * Chromosome 7, partial monosomy 7p
      * Chromosome 7, trisomy 7p
      * Chromosome 7, trisomy 7p13 p12 2
      * Chromosome 7, trisomy 7q
      * Chromosome 7, trisomy mosaic
      * Chromosome 8 deletion
      * Chromosome 8 ring
      * Chromosome 8, monosomy 8p
      * Chromosome 8, monosomy 8p2
      * Chromosome 8, monosomy 8p23 1
      * Chromosome 8, monosomy 8q
      * Chromosome 8, mosaic trisomy
      * Chromosome 8, partial trisomy
      * Chromosome 8, trisomy
      * Chromosome 8, trisomy 8p
      * Chromosome 8, trisomy 8q
      * Chromosome 9 inversion or duplication
      * Chromosome 9 Ring
      * Chromosome 9, deletion 9q21.33q22.32
      * Chromosome 9, duplication 9q21
      * Chromosome 9, monosomy 9p
      * Chromosome 9, partial monosomy 9p
      * Chromosome 9, partial trisomy 9p
      * Chromosome 9, tetrasomy 9p
      * Chromosome 9, trisomy
      * Chromosome 9, trisomy 9p
      * Chromosome 9, trisomy 9q
      * Chromosome 9, trisomy 9q32
      * Chromosome 9, trisomy mosaic
      * Chromosome 9q deletion syndrome
      * Chromosome 9q duplication
      * Chromosomes 1 and 2, monosomy 2q duplication 1p
      * Chronic berylliosis
      * Chronic demyelinizing neuropathy with IgM monoclonal
      * Chronic erosive gastritis
      * Chronic granulomatous disease
      * Chronic hiccup
      * Chronic inflammatory demyelinating polyneuropathy
      * Chronic lymphocytic leukemia
      * Chronic myelogenous leukemia
      * Chronic myelomonocytic leukemia
      * Chronic Myeloproliferative Disorders
      * Chronic necrotizing vasculitis
      * Chronic neutropenia
      * Chronic polyradiculoneuritis
      * Chronic recurrent multifocal osteomyelitis
      * Chronic, Infantile, Neurological, Cutaneous, Articular syndrome
      * Chudley Rozdilsky syndrome
      * Chudley-Mccullough syndrome
      * Churg-Strauss syndrome
      * Chylomicron retention disease
      * Chylothorax, congenital
      * Chylous ascites
      * Cicatricial pemphigoid
      * Ciguatera fish poisoning
      * Ciliary discoordination, due to random ciliary orientation
      * Ciliary dyskinesia, due to transposition of ciliary microtubules
      * Ciliary dyskinesia-bronchiectasis
      * Cilliers Beighton syndrome
      * Circumscribed cutaneous aplasia of the vertex
      * Circumscribed disseminated keratosis Jadassohn Lew type
      * Citrin deficiency
      * Citrulline transport defect
      * Clark-Baraitser syndrome
      * Classic citrullinemia
      * Clayton-Smith Donnai syndrome
      * Clear cell renal cell carcinoma
      * Cleft hand absent tibia
      * Cleft lip and palate malrotation cardiopathy
      * Cleft lip and/or palate with mucous cysts of lower
      * Cleft lip palate abnormal thumbs microcephaly
      * Cleft lip palate deafness sacral lipoma
      * Cleft lip palate dysmorphism Kumar type
      * Cleft lip palate ectrodactyly
      * Cleft lip palate incisor and finger anomalies
      * Cleft lip palate mental retardation corneal opacity
      * Cleft lip palate oligodontia syndactyly pili torti
      * Cleft lip palate pituitary deficiency
      * Cleft lip palate-tetraphocomelia
      * Cleft lower lip cleft lateral canthi chorioretinal
      * Cleft palate cardiac defect ectrodactyly
      * Cleft palate colobomata radial synostosis deafness
      * Cleft palate heart disease polydactyly absent tibia
      * Cleft palate lateral synechia syndrome
      * Cleft palate short stature vertebral anomalies
      * Cleft palate stapes fixation oligodontia
      * Cleft palate X-linked
      * Cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss
      * Cleft tongue syndrome
      * Cleft upper lip median cutaneous polyps
      * Cleidocranial dysplasia
      * Cleidorhizomelic syndrome
      * C-like syndrome
      * Cloacal exstrophy
      * Clostridium sordellii
      * Cloverleaf skull micromelia thoracic dysplasia
      * Cluttering
      * CMV antenatal infection
      * COACH syndrome
      * Coal worker's pneumoconiosis
      * Coarctation of aorta dominant
      * Coarse face hypotonia constipation
      * Coats disease
      * Cocaine antenatal infection
      * Cocaine fetopathy
      * Coccidioidomycosis
      * Cochleosaccular degeneration of the inner ear and progressive cataracts
      * Cockayne syndrome type C
      * Cockayne syndrome, type A
      * Cockayne syndrome, type B
      * Cockayne's syndrome
      * CODAS syndrome
      * Coenzyme Q cytochrome c reductase deficiency of
      * Coffin syndrome 1
      * Coffin-Lowry syndrome
      * Coffin-Siris syndrome
      * COFS syndrome
      * Cogan-Reese syndrome
      * Cogan's syndrome
      * Cohen Hayden syndrome
      * Cohen Lockood Wyborney syndrome
      * Cohen syndrome
      * Cold agglutination syndrome
      * Cold agglutinin disease
      * Cold contact urticaria
      * Cole Carpenter syndrome
      * Coleman Randall syndrome
      * Collagenopathy, type 2 alpha 1
      * Collagenous colitis
      * Collecting duct carcinoma
      * Collins Pope syndrome
      * Collins Sakati syndrome
      * Colloid cysts of third ventricle
      * Coloboma chorioretinal cerebellar vermis aplasia
      * Coloboma hair abnormality
      * Coloboma of Alar-nasal cartilages with telecanthus
      * Coloboma of choroid and retina
      * Coloboma of eye lens
      * Coloboma of iris
      * Coloboma of lens ala nasi
      * Coloboma of macula
      * Coloboma of macula type B brachydactyly
      * Coloboma of optic nerve
      * Coloboma of optic papilla
      * Coloboma porencephaly hydronephrosis
      * Coloboma, cleft lip/palate and mental retardation syndrome
      * Colobomata unilobar lung heart defect
      * Colobomatous microphthalmia heart disease hearing
      * Colonic atresia
      * Colonic malakoplakia
      * Colorectal cancer, hereditary nonpolyposis, type 1
      * Colpocephaly
      * Colver Steer Godman syndrome
      * Combarros Calleja Leno syndrome
      * Combined hyperlipidemia, familial
      * Common mesentery
      * Common variable immunodeficiency
      * Compartment syndrome
      * Complement component 2 deficiency
      * Complement component deficiency
      * Complement component receptor 1
      * Complement receptor deficiency
      * Complete atrioventricular canal
      * Complex 1 mitochondrial respiratory chain deficiency
      * Complex 2 mitochondrial respiratory chain deficiency
      * Complex 3 mitochondrial respiratory chain deficiency
      * Complex 4 mitochondrial respiratory chain deficiency
      * Complex 5 mitochondrial respiratory chain deficiency
      * Conductive deafness malformed external ear
      * Conductive hearing loss
      * Condyloma
      * Condyloma acuminatum
      * Cone dystrophy
      * Cone dystrophy, x-linked, with tapetal-like sheen
      * Cone rod dystrophy
      * Cone rod dystrophy amelogenesis imperfecta
      * Congenital absence of the sternocleidomastoid muscle
      * Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency
      * Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
      * Congenital adrenal hyperplasia type 2
      * Congenital afibrinogenemia
      * Congenital alopecia X-linked
      * Congenital amegakaryocytic thrombocytopenia
      * Congenital amputation
      * Congenital aneurysms of the great vessels
      * Congenital anosmia
      * Congenital antithrombin 3 deficiency
      * Congenital aplastic anemia
      * Congenital arteriovenous shunt
      * Congenital articular rigidity
      * Congenital benign spinal muscular atrophy dominant
      * Congenital bilateral aplasia of vas deferens
      * Congenital bronchobiliary fistula
      * Congenital cardiovascular malformations
      * Congenital cardiovascular shunt
      * Congenital central hypoventilation syndrome
      * Congenital chloride diarrhea
      * Congenital contractural arachnodactyly
      * Congenital contractures
      * Congenital craniosynostosis maternal hyperthyroiditis
      * Congenital cystic eye multiple ocular and intracranial anomalies
      * Congenital cytomegalovirus
      * Congenital deafness
      * Congenital diaphragmatic hernia
      * Congenital dislocation of the patella
      * Congenital disorder of glycosylation type 1A
      * Congenital disorder of glycosylation type 1B
      * Congenital disorder of glycosylation type 1C
      * Congenital disorder of glycosylation type 1D
      * Congenital disorder of glycosylation type 1E
      * Congenital disorder of glycosylation type 1F
      * Congenital disorder of glycosylation type 1G
      * Congenital disorder of glycosylation type 1H
      * Congenital disorder of glycosylation type 1I
      * Congenital disorder of glycosylation type 1J
      * Congenital disorder of glycosylation type 1K
      * Congenital disorder of glycosylation type 1L
      * Congenital disorder of glycosylation type 1X
      * Congenital disorder of glycosylation type 2A
      * Congenital disorder of glycosylation type 2D
      * Congenital disorder of glycosylation type 2E
      * Congenital disorder of glycosylation, type 2C
      * Congenital disorder of glycosylation, type 2G
      * Congenital ectodermal dysplasia with hearing loss
      * Congenital fiber type disproportion
      * Congenital generalized fibromatosis
      * Congenital generalized lipodystrophy type 1
      * Congenital generalized lipodystrophy type 2
      * Congenital giant megaureter
      * Congenital heart block
      * Congenital heart disease ptosis hypodontia craniostosis
      * Congenital heart disease radio ulnar synostosis mental retardation
      * Congenital heart septum defect
      * Congenital hemidysplasia with ichtyosiform erythroderma and limbs defects
      * Congenital hemolytic anemia
      * Congenital hepatic fibrosis
      * Congenital herpes simplex
      * Congenital hypomyelination neuropathy
      * Congenital hypothyroidism
      * Congenital hypotrichosis milia
      * Congenital ichthyosis, microcephalus, quadriplegia
      * Congenital ichtyosiform erythroderma
      * Congenital megacolon
      * Congenital megalo-ureter
      * Congenital mesoblastic nephroma
      * Congenital microvillous atrophy
      * Congenital mitral malformation
      * Congenital mitral stenosis
      * Congenital mixovirus
      * Congenital mumps
      * Congenital Muscular dystrophy
      * Congenital muscular dystrophy syringomyelia
      * Congenital myasthenic syndrome with episodic apnea
      * Congenital myopathy
      * Congenital myotonic dystrophy
      * Congenital nephrotic syndrome, Finnish type
      * Congenital nonhemolytic jaundice
      * Congenital pseudoarthrosis
      * Congenital short bowel
      * Congenital short femur
      * Congenital spherocytic anemia
      * Congenital spherocytic hemolytic anemia
      * Congenital stenosis of cervical medullary canal
      * Congenital sucrose isomaltose malabsorption
      * Congenital thrombotic disease, due to Protein C deficiency
      * Congenital torticollis
      * Congenital unilateral pulmonary hypoplasia
      * Congenital vagal hyperreflexivity
      * Congenital varicella syndrome
      * Congenitally corrected transposition of the great arteries
      * Conjunctivitis ligneous
      * Conjunctivitis with Pseudomembrane
      * Connective tissue dysplasia Spellacy type
      * Connexin 26 anomaly
      * Conn's syndrome
      * Conorenal Syndrome
      * Conotruncal heart malformations
      * Conradi-Hunermann syndrome
      * Constrictive bronchiolitis
      * Continuous muscle fiber activity hereditary
      * Continuous spike-wave during slow sleep syndrome
      * Contractures ectodermal dysplasia cleft lip palate
      * Conversion disorder
      * Convulsions benign familial neonatal dominant form
      * Convulsions, benign familial infantile, 1
      * Copper deficiency, familial benign
      * Coproporphyria
      * CoQ-responsive OXPHOS deficiency
      * Cor biloculare
      * Cor triatriatum
      * Cormier Rustin Munnich syndrome
      * Cornea guttata with anterior polar cataract
      * Corneal anesthesia deafness mental retardation
      * Corneal cerebellar syndrome
      * Corneal crystals myopathy neuropathy
      * Corneal dystrophy
      * Corneal dystrophy and perceptive deafness
      * Corneal dystrophy Avellino type
      * Corneal dystrophy crystalline of Schnyder
      * Corneal dystrophy ichthyosis microcephaly mental retardation
      * Corneal dystrophy of Bowman layer, type 1
      * Corneal dystrophy pigmentary anomaly malabsorption
      * Corneal dystrophy, epithelial basement membrane
      * Corneal dystrophy, Fuchs' endothelial, 1
      * Corneal dystrophy, Fuchs' endothelial, 2
      * Corneal dystrophy, gelatinous drop-like
      * Corneal dystrophy, juvenile epithelial of Meesmann
      * Corneal dystrophy, Thiel-Behnke type
      * Corneal endothelial dystrophy type 2
      * Corneal hypesthesia, familial
      * Cornelia de Lange syndrome 1
      * Cornelia de Lange syndrome 2
      * Cornelia de Lange syndrome 3
      * Corneodermatoosseous syndrome
      * Coronal synostosis, syndactyly and jejunal atresia
      * Coronaro-cardiac fistula
      * Coronary arteries congenital malformation
      * Coronary artery aneurysm
      * Corpus callosum agenesis
      * Corpus callosum agenesis double urinary collecting
      * Corpus callosum agenesis neuronopathy
      * Corpus callosum agenesis of blepharophimosis Robin type
      * Corpus callosum agenesis polysyndactyly
      * Corpus callosum dysgenesis cleft spasm
      * Corpus callosum dysgenesis hypopituitarism
      * Corpus callosum dysgenesis X-linked recessive
      * Corsello Opitz syndrome
      * Cortada Koussef Matsumoto syndrome
      * Cortes Lacassie syndrome
      * Cortical blindness mental retardation polydactyly
      * Cortical hyperostosis syndactyly
      * Corticobasal degeneration
      * Cortisone reductase deficiency
      * Costello syndrome
      * Costocoracoid ligament congenitally short
      * Cote Katsantoni syndrome
      * Cousin Walbraum Cegarra syndrome
      * Covesdem syndrome
      * Cowchock syndrome
      * Cowden's disease
      * Coxa vara, congenital
      * Coxoauricular syndrome
      * Cramer Niederdellmann syndrome
      * Cramp-fasciculations syndrome
      * Crandall syndrome
      * Crane-Heise syndrome
      * Cranio osteoarthropathy
      * Cranioacrofacial syndrome
      * Craniodiaphyseal dysplasia
      * Craniodigital syndrome mental retardation
      * Cranioectodermal dysplasia
      * Craniofacial and skeletal defects
      * Craniofacial deafness hand syndrome
      * Craniofacial dysostosis arthrogryposis progeroid appearence
      * Craniofacial dysostosis type 1
      * Craniofacial dyssynostosis
      * Craniofaciocardioskeletal syndrome
      * Craniofaciocervical osteoglyphic dysplasia
      * Craniofrontonasal dysplasia
      * Craniofrontonasal syndrome Teebi type
      * Craniometaphyseal dysplasia dominant type
      * Craniometaphyseal dysplasia, autosomal recessive type
      * Craniomicromelic syndrome
      * Craniostenosis cataract
      * Craniostenosis with congenital heart disease mental retardation
      * Craniosynostosis
      * Craniosynostosis alopecia brain defect
      * Craniosynostosis arthrogryposis cleft palate
      * Craniosynostosis autosomal dominant
      * Craniosynostosis cleft lip palate arthrogryposis
      * Craniosynostosis contractures cleft
      * Craniosynostosis exostoses nevus epibulbar dermoid
      * Craniosynostosis fibular aplasia
      * Craniosynostosis Fontaine type
      * Craniosynostosis Maroteaux Fonfria type
      * Craniosynostosis mental retardation clefting syndrome
      * Craniosynostosis mental retardation heart defects
      * Craniosynostosis Philadelphia type
      * Craniosynostosis radial aplasia syndrome
      * Craniosynostosis synostoses hypertensive nephropathy
      * Craniosynostosis Warman type
      * Craniosynostosis, anal anomalies, and porokeratosis
      * Craniosynostosis, sagittal, with Dandy-Walker malformation and hydrocephalus
      * Craniotelencephalic dysplasia
      * Crawfurd syndrome
      * Creatine deficiency, X-linked
      * Creeping disease
      * CREST syndrome
      * Cretinism
      * Cretinism athyreotic
      * Creutzfeldt Jakob disease
      * Cri du chat syndrome
      * Crigler Najjar syndrome, type 1
      * Crigler Najjar syndrome, type 2
      * Crisponi syndrome
      * Crohn’s disease, pediatric
      * Crohn's disease of the esophagus
      * Crome syndrome
      * Cronkhite-Canada disease
      * Crossed polydactyly type 1
      * Crossed polysyndactyly
      * Crumpled helices and small mouth
      * Cryofibrinogenemia
      * Cryptococcosis
      * Cryptogenic organized pneumopathy
      * Cryptomicrotia brachydactyly syndrome
      * Cryptorchidism arachnodactyly mental retardation
      * Cryptosporidiosis
      * Crystal deposit disease
      * Culler Jones syndrome
      * Curly hair ankyloblepharon nail dysplasia syndrome
      * Curly hair-acral keratoderma-caries syndrome
      * Currarino triad
      * Curry Hall syndrome
      * Curtis Rogers Stevenson syndrome
      * Cushing syndrome, familial
      * Cushing's symphalangism
      * Cutaneous anthrax
      * Cutaneous larva migrans
      * Cutaneous lupus erythematosus
      * Cutaneous photosensitivity and colitis, lethal
      * Cutaneous T-cell lymphoma
      * Cutaneous vascularitis
      * Cutis Gyrata syndrome of Beare and Stevenson
      * Cutis gyratum acanthosis nigricans craniosynostosis
      * Cutis laxa
      * Cutis laxa corneal clouding mental retardation
      * Cutis laxa osteoporosis
      * Cutis laxa with joint laxity and retarded development
      * Cutis laxa, dominant type
      * Cutis laxa, recessive
      * Cutis laxa, recessive type 2
      * Cutis marmorata telangiectatica congenita
      * Cutis verticis gyrata
      * Cutis verticis gyrata mental deficiency
      * Cutler Bass Romshe syndrome
      * Cyclic neutropenia
      * Cyclic vomiting syndrome
      * Cyclosporiasis
      * Cyclosporosis
      * Cyprus facial neuromusculoskeletal syndrome
      * Cystic adenomatoid malformation of lung
      * Cystic angiomatosis of bone, diffuse
      * Cystic fibrosis
      * Cystic fibrosis gastritis megaloblastic anemia
      * Cystic hamartoma of lung and kidney
      * Cystic hygroma
      * Cystic hygroma lethal cleft palate
      * Cystic medial necrosis of aorta
      * Cysticercosis
      * Cystin transport, protein defect of
      * Cystinosis
      * Cystinosis, ocular nonnephropathic
      * Cystinuria
      * Cystinuria-lysinuria
      * Cystosarcoma phyllodes
      * Cytochrome C oxidase deficiency
      * Cytokine deficiency
      * Cytokine receptor deficiency
      * Cytomegalic inclusion disease
      * Cytomegalovirus
      * Cytomegalovirus retinitis
      * Cytoplasmic body myopathy
      * Czech dysplasia, metatarsal type
      * Czeizel Losonci syndrome
      * Czeizel syndrome


      D


      * D ercole syndrome
      * Daentl Towsend Siegel syndrome
      * Dahlberg Borer Newcomer syndrome
      * Daish Hardman Lamont syndrome
      * Dancing eyes-dancing feet syndrome
      * Dandy Walker facial hemangioma
      * Dandy Walker malformation postaxial polydactyly
      * Dandy Walker syndrome
      * Dandy Walker syndrome recessive form
      * Dandy Walker variant
      * Dandy-Walker malformation with mental retardation, basal ganglia disease, and seizures
      * Dandy-walker malformation with mental retardation, macrocephaly, myopia, and brachytelephalangy
      * Daneman Davy Mancer syndrome
      * Danubian endemic familial nephropathy
      * Darier's disease
      * Davenport Donlan syndrome
      * Davis Lafer syndrome
      * De Barsy syndrome
      * De Hauwere Leroy Adriaenssens syndrome
      * De Quervains' disease
      * De Sanctis-Cacchione syndrome
      * Deafness conductive ptosis skeletal anomalies
      * Deafness conductive stapedial ear malformation facial palsy
      * Deafness craniofacial syndrome
      * Deafness enamel hypoplasia nail defects
      * Deafness epiphyseal dysplasia short stature
      * Deafness goiter stippled epiphyses
      * Deafness hyperuricemia neurologic ataxia
      * Deafness hypogonadism syndrome
      * Deafness hypospadias metacarpal and metatarsal syndrome
      * Deafness mesenteric diverticula of small bowel neuropathy
      * Deafness mixed with perilymphatic Gusher, X-linked
      * Deafness nephritis ano rectal malformation
      * Deafness neurosensory pituitary dwarfism
      * Deafness nonsyndromic, Connexin 26 linked
      * Deafness oligodontia syndrome
      * Deafness onychodystrophy dominant form
      * Deafness peripheral neuropathy arterial disease
      * Deafness progressive cataract autosomal dominant
      * Deafness skeletal dysplasia lip granuloma
      * Deafness vitiligo achalasia
      * Deafness white hair contractures papillomas
      * Deafness X-linked, DFN3
      * Deafness, autosomal dominant nonsyndromic sensorineural 17
      * Deafness, autosomal dominant nonsyndromic sensorineural 22
      * Deafness, autosomal dominant nonsyndromic sensorineural 23
      * Deafness, autosomal dominant nonsyndromic sensorineural 24
      * Deafness, autosomal dominant nonsyndromic sensorineural 3
      * Deafness, autosomal dominant nonsyndromic sensorineural 53
      * Deafness, autosomal recessive 51
      * Deafness, autosomal recessive 55
      * Deafness, congenital onychodystrophy, recessive form
      * Deafness, isolated, due to mitochondrial transmission
      * Deafness, neurosensory nonsyndromic recessive, DFN
      * Deafness, neurosensory, autosomal recessive 47
      * Deafness, X-linked, DFN
      * Deal Barratt Dillon syndrome
      * Defect in synthesis of adenosylcobalamin
      * Defective apolipoprotein B-100
      * Degenerative motor system disease
      * Degenerative optic myopathy
      * Degos disease
      * Degos 'en cocarde' erythrokeratoderma
      * Dehydratase deficiency
      * Delayed membranous cranial ossification
      * Delayed speech facial asymetry strabismus ear lobe creases
      * Deletion 6q16 q21
      * Delleman Oorthuys syndrome
      * Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency
      * Delta-sarcoglycanopathy
      * Dementia, familial British
      * Dementia, familial Danish
      * Demodicidosis
      * Demyelinating diseases
      * Dengue fever
      * Dennis Fairhurst Moore syndrome
      * Dens in dente and palatal invaginations
      * Dent disease 1
      * Dentatorubral pallidoluysian atrophy
      * Dentin dysplasia sclerotic bones
      * Dentin dysplasia, coronal
      * Dentin dysplasia, type 1
      * Dentinogenesis imperfecta
      * Dentinogenesis imperfecta, shields type 3
      * Depersonalization disorder
      * Der Kaloustian Mcintosh Silver syndrome
      * Dermatitis herpetiformis, familial
      * Dermatocardioskeletal syndrome Boronne type
      * Dermatofibroma
      * Dermatofibrosarcoma protuberans
      * Dermatoleukodystrophy
      * Dermatomyositis
      * Dermatoosteolysis Kirghizian type
      * Dermatopathia pigmentosa reticularis
      * Dermochondrocorneal dystrophy of François
      * Dermoids of cornea
      * Dermoodontodysplasia
      * Desbuquois syndrome
      * Desmin related myopathy
      * Desmoid disease, hereditary
      * Desmoid tumor
      * Desmoplastic cerebral astrocytoma of infancy
      * Desmoplastic infantile ganglioma
      * Desmoplastic small round cell tumor
      * Developmental delay hypotonia extremities hypertrophy
      * Developmental dysphasia familial
      * Devic disease
      * Devriendt Legius Fryns syndrome
      * Devriendt syndrome
      * Devriendt Vandenberghe Fryns syndrome
      * Dexamethasone sensitive hypertension
      * Dextrocardia
      * Dextrocardia with situs inversus
      * Dextrocardia-bronchiectasis-sinusitis
      * D-glycericacidemia
      * Di Guglielmo's syndrome
      * Diabetes hypogonadism deafness mental retardation
      * Diabetes insipidus primary central
      * Diabetes insipidus, diabetes mellitus, optic atrophy
      * Diabetes insipidus, nephrogenic type 1
      * Diabetes insipidus, nephrogenic type 2
      * Diabetes insipidus, nephrogenic type 3
      * Diabetes insipidus, nephrogenic with mental retardation and intracerebral calcification
      * Diabetes insipidus, nephrogenic, dominant type
      * Diabetes insipidus, nephrogenic, recessive type
      * Diabetes mellitus, transient neonatal
      * Diabetes persistent mullerian ducts
      * Diamond Blackfan anemia
      * Dianzani autoimmune lymphoproliferative syndrome
      * Diaphragmatic agenesia
      * Diaphragmatic agenesis radial aplasia omphalocele
      * Diaphragmatic defect limb deficiency skull defect
      * Diaphragmatic hernia exomphalos corpus callosum agenesis
      * Diaphragmatic hernia upper limb defects
      * Diaphyseal medullary stenosis with malignant fibrous histiocytoma
      * Diarrhea chronic with villous atrophy
      * Diarrhea polyendocrinopathy infections X-linked
      * Diastematomyelia
      * Diastrophic dysplasia
      * Dibasic aminoaciduria 1
      * Dibasic aminoaciduria 2
      * Dicarboxylicaminoaciduria
      * Die Smulders Droog Van Dijk syndrome
      * Die Smulders Vles Fryns syndrome
      * Diencephalic syndrome
      * Dieterich's disease
      * Diethylstilbestrol antenatal infection
      * Diffuse idiopathic skeletal hyperostosis
      * Diffuse neonatal hemangiomatosis
      * Diffuse palmoplantar keratoderma, Bothnian type
      * Diffuse panbronchiolitis
      * Diffuse systemic sclerosis
      * DiGeorge syndrome
      * Digestive duplication
      * Digitorenocerebral syndrome
      * Dihydropyrimidine dehydrogenase deficiency
      * Dilated cardiomyopathy
      * Dimauro disease
      * Dincsoy Salih Patel syndrome
      * Dinno Shearer Weisskopf syndrome
      * Diomedi Bernardi Placidi syndrome
      * Dionisi Vici Sabetta Gambarara syndrome
      * Diphallia
      * Diphallus rachischisis imperforate anus
      * Diphosphoglycerate mutase deficiency of erythrocyte
      * Diphtheria
      * Diprosopia
      * Dislocation of the hip dysmorphism
      * Dissecting cellulitis of the scalp
      * Disseminated infection with mycobacterium avium complex
      * Dissociative hysteria
      * Distal arthrogryposis Moore Weaver type
      * Distal myopathy
      * Distal myopathy Markesbery-Griggs type
      * Distal myopathy with vocal cord weakness
      * Distal myopathy, Nonaka type
      * Distal primary acidosis, familial
      * Distichiasis heart congenital anomalies
      * Distomatosis
      * Dk phocomelia syndrome
      * D-minus hemolytic uremic syndrome (D-HUS)
      * Dobrow syndrome
      * Dominant cleft palate
      * Dominant ichthyosis vulgaris
      * Donnai Barrow syndrome
      * Donovanosis
      * Dopamine beta hydroxylase deficiency
      * Dosage-sensitive sex reversal
      * Double cortex syndrome
      * Double discordia
      * Double fingernail of fifth finger
      * Double nails on the fifth toe
      * Double outlet left ventricle
      * Double outlet right ventricle
      * Double tachycardia induced by catecholamines
      * Double uterus-hemivagina-renal agenesis
      * Dowling-Degos disease
      * Doxorubicin induced cardiomyopathy
      * Doyne honeycomb retinal dystrophy
      * D-plus hemolytic uremic syndrome (D+HUS)
      * Drachtman Weinblatt Sitarz syndrome
      * Dracunculiasis
      * Duane anomaly mental retardation
      * Duane retraction syndrome 1
      * Duane retraction syndrome 2
      * Duane-radial ray syndrome
      * Dubin-Johnson syndrome
      * Dubowitz syndrome
      * Duchenne muscular dystrophy
      * Duhring Brocq disease
      * Duhring's disease
      * Duker Weiss Siber syndrome
      * Duodenal atresia
      * Duodenal atresia tetralogy of Fallot
      * Duodenal ulcer due to antral G-cell hyperfunction
      * Duodenojejunal atresia with volvulus, absent dorsal mesentery and absent superior mesenteric artery
      * Duplication of leg mirror foot
      * Duplication of the thumb unilateral biphalangeal
      * Duplication of urethra
      * Dupont Sellier Chochillon syndrome
      * Dupuytren subungual exostosis
      * Dupuytren's contracture
      * Dwarfism
      * Dwarfism bluish sclerae
      * Dwarfism deafness retinitis pigmentosa
      * Dwarfism lethal type advanced bone age
      * Dwarfism short limb absent fibulas very short digits
      * Dwarfism stiff joint ocular abnormalities
      * Dwarfism syndesmodysplasic
      * Dwarfism tall vertebrae
      * Dwarfism thin bones multiple fractures
      * Dyggve-Melchior-Clausen syndrome
      * Dykes Markes Harper syndrome
      * Dysautonomia like disorder
      * Dyschondrosteosis nephritis
      * Dyschromatosis symmetrica hereditaria 1
      * Dyschromatosis universalis hereditaria
      * Dysequilibrium syndrome
      * Dyserythropoietic anemia, congenital
      * Dyserythropoietic anemia, congenital type 1
      * Dyserythropoietic anemia, congenital type 2
      * Dyserythropoietic anemia, congenital type 3
      * Dysesthetic Vulvodynia
      * Dysferlinopathy
      * Dysfibrinogenemia, familial
      * Dysgerminoma
      * Dysgnathia complex
      * Dysharmonic skeletal maturation muscular fiber disproportion
      * Dyskeratosis congenita
      * Dyskeratosis congenita of Zinsser Cole Engman
      * Dyskeratosis follicularis
      * Dyskinesia, drug induced
      * Dysmorphism abnormal vocalization mental retardation
      * Dysmorphism cleft palate loose skin
      * Dysmyelination
      * Dysosteosclerosis
      * Dysostosis
      * Dysostosis acral with facial and genital abnormalities
      * Dysostosis peripheral
      * Dysostosis Stanescu type
      * Dysphasic dementia, hereditary
      * Dysphonia, chronic spasmodic
      * Dysplasia epiphysealis hemimelica
      * Dysplastic cortical hyperostosis
      * Dysplastic nevus syndrome
      * Dysprothrombinemia
      * Dysraphism cleft lip palate limb reduction defects
      * Dyssegmental dysplasia
      * Dyssegmental dysplasia glaucoma
      * Dyssegmental dysplasia, Rolland-Desbuquois type
      * Dystelephalangy
      * Dystonia 12
      * Dystonia 15, myoclonic
      * Dystonia 6, torsion
      * Dystonia musculorum deformans 4
      * Dystonia musculorum deformans type 1
      * Dystonia musculorum deformans type 2
      * Dystonia, Dopa-responsive
      * Dystrophia myotonica 1
      * Dystrophia myotonica 2
      * Dystrophic epidermolysis bullosa
      * Dystrophinopathy

    3. #3
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      E


      * EAF
      * Eagle's syndrome
      * Eales disease
      * Ear, patella, short stature syndrome
      * Early-onset ataxia with oculomotor apraxia and hypoalbuminemia
      * Ebola virus disease
      * Ebstein's anomaly
      * Eccentrochondrodysplasia
      * Eccrine acrospiroma
      * Eccrine spiradenoma
      * Eclampsia
      * Ecp syndrome
      * Ectodermal dysplasia
      * Ectodermal dysplasia 2, hidrotic
      * Ectodermal dysplasia adrenal cyst
      * Ectodermal dysplasia alopecia preaxial polydactyly
      * Ectodermal dysplasia anhidrotic
      * Ectodermal dysplasia arthrogryposis diabetes mellitus
      * Ectodermal dysplasia Bartalos type
      * Ectodermal dysplasia Berlin type
      * Ectodermal dysplasia blindness
      * Ectodermal dysplasia ectrodactyly macular dystrophy
      * Ectodermal dysplasia hypohidrotic autosomal dominant
      * Ectodermal dysplasia hypohidrotic hypothyroidism ciliary diskinesia
      * Ectodermal dysplasia Margarita type
      * Ectodermal dysplasia mental retardation CNS malformation
      * Ectodermal dysplasia mental retardation syndactyly
      * Ectodermal dysplasia neurosensory deafness
      * Ectodermal dysplasia osteosclerosis
      * Ectodermal dysplasia tricho odonto onychial type
      * Ectodermal dysplasia, hidrotic, Christianson-Fourie type
      * Ectodermal dysplasia, hypohidrotic, autosomal recessive
      * Ectodermal dysplasia, hypohidrotic, with immune deficiency
      * Ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features
      * Ectodermal dysplasia/ skin fragility syndrome
      * Ectodermal dysplasias
      * Ectodermic dysplasia anhidrotic cleft lip
      * Ectopia lentis isolated
      * Ectopia pupillae
      * Ectopic coarctation
      * Ectopic ossification familial type
      * Ectopic pregnancy
      * Ectrodactyly
      * Ectrodactyly cardiopathy dysmorphism
      * Ectrodactyly cleft palate syndrome
      * Ectrodactyly dominant form
      * Ectrodactyly ectrodermal dysplasia
      * Ectrodactyly polydactyly
      * Ectrodactyly recessive form
      * Ectrodactyly-ectodermal dysplasia-cleft lip/cleft palate
      * Ectropion inferior cleft lip and or palate
      * Edinburgh malformation syndrome
      * Edwards Patton Dilly syndrome
      * Edwards syndrome
      * EEC syndrome
      * Eec syndrome without cleft lip palate
      * EEM syndrome
      * Egg shaped pupils
      * Ehlers Danlos syndrome type 4, autosomal dominant
      * Ehlers-Danlos syndrome
      * Ehlers-Danlos syndrome 6B
      * Ehlers-Danlos syndrome caused by tenascin-X deficiency
      * Ehlers-Danlos syndrome type 1
      * Ehlers-Danlos syndrome type 2
      * Ehlers-Danlos syndrome type 3
      * Ehlers-Danlos syndrome type 5
      * Ehlers-Danlos syndrome type 6
      * Ehlers-Danlos syndrome type 7A
      * Ehlers-Danlos syndrome type 7B
      * Ehlers-Danlos syndrome type 7C
      * Ehlers-Danlos syndrome, arthrochalasic type
      * Ehlers-Danlos syndrome, Beasley Cohen type
      * Ehlers-Danlos syndrome, cardiac valvular form
      * Ehlers-Danlos syndrome, classic type
      * Ehlers-Danlos syndrome, dermatosparaxis type
      * Ehlers-Danlos syndrome, hypermobile type
      * Ehlers-Danlos syndrome, progeroid form
      * Ehlers-Danlos syndrome, type 10
      * Ehrlichiosis
      * Eijkman's syndrome
      * Eisenmenger syndrome
      * Ekbom syndrome
      * Elastosis perforans serpiginosa
      * Elective mutism
      * Electron transfer flavoprotein, deficiency of
      * Elejalde syndrome
      * Elephant man in context of NF
      * Elliott Ludman Teebi syndrome
      * Ellis Yale Winter syndrome
      * Emanuel syndrome
      * Emanuel syndrome
      * Embryonal sarcoma
      * Emerinopathy
      * Emery Nelson syndrome
      * Emery-Dreifuss muscular dystrophy
      * Emery-Dreifuss muscular dystrophy, dominant type
      * Emery-Dreifuss muscular dystrophy, X-linked
      * Emphysema, congenital lobar
      * Empty sella syndrome
      * Enamel hypoplasia cataract hydrocephaly
      * Encephalitis lethargica
      * Encephalocele
      * Encephalocele anencephaly
      * Encephalocele anterior
      * Encephalocele frontal
      * Encephalocraniocutaneous lipomatosis
      * Encephalomyelitis
      * Encephalopathy intracerebral calcification retinal
      * Encephalopathy progressive optic atrophy
      * Encephalopathy, ethylmalonic
      * Encephalopathy-basal ganglia-calcification
      * Enchondromatosis (benign)
      * Enchondromatosis dwarfism deafness
      * Endocardial fibroelastosis
      * Endocarditis
      * Endocarditis, infective
      * Endocrinopathy
      * Endolymphatic sac tumors (ELST's) in Von Hippel Lindau (VHL) disease
      * Endometrial cancer
      * Endometrial stromal sarcoma
      * Endomyocardial fibroelastosis
      * Endomyocardial fibrosis
      * Eng Strom syndrome
      * Engelhard Yatziv syndrome
      * Enlarged vestibular aqueduct syndrome
      * Enolase deficiency
      * Enolase deficiency type 1
      * Enolase deficiency type 2
      * Enolase deficiency type 3
      * Enolase deficiency type 4
      * Enterobiasis
      * Enteropathica
      * Enteropathy-associated T-cell lymphoma
      * Enterovirus antenatal infection
      * Envenomization by bothrops lanceolatus
      * Envenomization by the Martinique lancehead viper
      * Environment associated hypertension
      * Eosinophilia-myalgia syndrome
      * Eosinophilic cryptitis
      * Eosinophilic cystitis
      * Eosinophilic enteropathy
      * Eosinophilic fasciitis
      * Eosinophilic granuloma
      * Eosinophilic lymphogranuloma
      * Eosinophilic pustular folliculitis
      * Eosinophilic synovitis
      * Ependymoblastoma
      * Ependymoma
      * Epidemic encephalitis
      * Epidemic encephalomyelitis
      * Epidermal nevus vitamin D resistant rickets
      * Epidermodysplasia verruciformis
      * Epidermoid carcinoma
      * Epidermolysa bullosa simplex and limb girdle muscular dystrophy
      * Epidermolysis bullosa
      * Epidermolysis bullosa acquisita
      * Epidermolysis bullosa dystrophica, Bart type
      * Epidermolysis bullosa dystrophica, dominant type
      * Epidermolysis bullosa dystrophica, Pasini type
      * Epidermolysis bullosa herpetiformis, Dowling-Meara
      * Epidermolysis bullosa intraepidermic
      * Epidermolysis bullosa inversa dystrophica
      * Epidermolysis bullosa letalis
      * Epidermolysis bullosa simplex with mottled pigmentation
      * Epidermolysis bullosa simplex, Cockayne-Touraine type
      * Epidermolysis bullosa simplex, Koebner type
      * Epidermolysis bullosa simplex, Ogna type
      * Epidermolysis bullosa with pyloric atresia
      * Epidermolysis bullosa, dermolytic
      * Epidermolysis bullosa, generalized atrophic benign
      * Epidermolysis bullosa, junctional
      * Epidermolysis bullosa, junctional, with pyloric atrophy
      * Epidermolysis bullosa, late-onset localized junctional, with mental retardation
      * Epidermolysis bullosa, lethal acantholytic
      * Epidermolysis bullosa, pretibial
      * Epilepsy benign neonatal dominant form
      * Epilepsy benign neonatal recessive form
      * Epilepsy juvenile absence
      * Epilepsy mental deterioration Finnish type
      * Epilepsy microcephaly skeletal dysplasia
      * Epilepsy occipital calcifications
      * Epilepsy progressive myoclonic type 3
      * Epilepsy telangiectasia
      * Epilepsy with myoclono-astatic crisis
      * Epilepsy, benign occipital
      * Epilepsy, myoclonic progressive familial
      * Epilepsy, nocturnal, frontal lobe type
      * Epilepsy, partial, familial
      * Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp
      * Epileptic encephalopathy, Lennox-Gastaut type
      * Epimerase deficiency
      * Epimetaphyseal dysplasia cataract
      * Epimetaphyseal skeletal dysplasia
      * Epiphyseal dysplasia dysmorphism camptodactyly
      * Epiphyseal dysplasia hearing loss dysmorphism
      * Epiphyseal dysplasia, multiple, 1
      * Epiphyseal dysplasia, multiple, 2
      * Epiphyseal dysplasia, multiple, 3
      * Epiphyseal dysplasia, multiple, 4
      * Epiphyseal dysplasia, multiple, 5
      * Epiphyseal stippling syndrome osteoclastic hyperplasia
      * Episodic Ataxia syndrome
      * Episodic ataxia with nystagmus
      * Epithelial-myoepithelial carcinoma
      * Epithelioid sarcoma
      * Epitheliopathy, acute posterior multifocal placoid
      * Epstein Barr virus, chronic
      * Epstein syndrome
      * Erdheim disease
      * Erdheim-Chester syndrome
      * Ermine phenotype
      * Eronen Somer Gustafsson syndrome
      * Erosive pustular dermatosis of the scalp
      * Erysipelas
      * Erythema elevatum diutinum
      * Erythema multiforme
      * Erythema nodosum, familial
      * Erythema nodosum, idiopathic
      * Erythermalgia
      * Erythroblastopenia
      * Erythroderma desquamativa of Leiner
      * Erythroderma lethal congenital
      * Erythrokeratodermia ataxia
      * Erythrokeratodermia progressive symmetrica ichthyosis
      * Erythrokeratodermia symmetrica progressiva
      * Erythrokeratodermia variabilis ichthyosis
      * Erythrokeratodermia variabilis, Mendes da Costa type
      * Erythrokeratodermia with ataxia
      * Erythromelalgia
      * Erythroplakia
      * Erythropoietic protoporphyria
      * Escher Hirt syndrome
      * Escobar syndrome, type B
      * Esophageal atresia
      * Esophageal atresia associated anomalies
      * Esophageal atresia coloboma talipes
      * Esophageal disorder
      * Esophageal duodenal atresia abnormalities of hands
      * Esophageal neoplasm
      * Esophageal varices
      * Esotropia
      * Essential hypertension
      * Essential iris atrophy
      * Essential mixed cryoglobulinemia
      * Essential thrombocytopenia
      * Essential thrombocytosis
      * Esthesioneuroblastoma
      * Euhidrotic ectodermal dysplasia
      * Eunuchoidism, familial hypogonadotropic
      * Evan's syndrome
      * Ewing's family of tumors
      * Ewing's sarcoma
      * Exencephaly
      * Exercise induced anaphylaxis
      * Exfoliative dermatitis
      * Exogenous lipoid pneumonia
      * Exostoses
      * Exostoses anetodermia brachydactyly type E
      * Exostoses, multiple
      * Exostoses, multiple, type 1
      * Exostoses, multiple, type 2
      * Exostoses, multiple, type 3
      * Exstrophy of the bladder
      * Exstrophy of the bladder-epispadias
      * Exsudative retinopathy familial, autosomal dominant
      * Exsudative retinopathy familial, autosomal recessive
      * Exsudative retinopathy familial, X-linked, recessive
      * Exsudative retinopathy, familial
      * Extragonadal Germ Cell Tumor
      * Extrasystoles short stature hyperpigmentation microcephaly
      * Exudative vitreoretinopathy 1
      * Eye defects arachnodactyly cardiopathy
      * Eyebrows duplication of, with stretchable skin and syndactyly


      F


      * Fabry disease
      * FACES syndrome
      * Facial asymetry temporal seizures
      * Facial clefting corpus callosum agenesis
      * Facial dysmorphism macrocephaly myopia Dandy Walker type
      * Facial dysmorphism shawl scrotum joint laxity syndrome
      * Facial ectodermal dysplasia
      * Facial paresis, hereditary, congenital
      * Facies unusual arthrogryposis advanced skeletal malformations
      * Facio digito genital syndrome recessive form
      * Facio skeletal genital syndrome Rippberger type
      * Facio thoraco genital syndrome
      * Faciocardiomelic dysplasia lethal
      * Faciocardiorenal syndrome
      * Faciomandibular myoclonus, nocturnal
      * Faciooculoacousticorenal syndrome
      * Facioscapulohumeral muscular dystrophy 1a
      * Factor 2 deficiency
      * Factor 7 deficiency
      * Factor 8 deficiency, acquired
      * Factor V deficiency
      * Factor V Leiden thrombophilia
      * Factor X deficiency
      * Factor X deficiency, congenital
      * Factor XI deficiency, congenital
      * Factor XII deficiency
      * Fairbank disease
      * Fallopian tube cancer
      * Fallot complex with severe mental and growth retardation
      * Fallot tetralogy
      * Familial adenomatous polyposis
      * Familial amyloid polyneuropathy
      * Familial aortic dissection
      * Familial band heterotopia
      * Familial capillaro-venous leptomeningeal angiomatosis
      * Familial cerebral cavernous malformation
      * Familial Cold Autoinflamatory Syndrome (FCAS)
      * Familial cold autoinflammatory syndrome
      * Familial Colorectal Cancer
      * Familial cylindromatosis
      * Familial deafness
      * Familial dermographism
      * Familial dilated cardiomyopathy
      * Familial emphysema
      * Familial encephalopathy with neuroserpin inclusion bodies
      * Familial erythrocytosis, 1
      * Familial hyperchylomicronemia
      * Familial hyperlipoproteinemia
      * Familial hyperlipoproteinemia type 1
      * Familial hyperlipoproteinemia type 3
      * Familial hyperlipoproteinemia type 4
      * Familial hypersecretion of adrenal androgens
      * Familial hypersensitivity pneumonitis
      * Familial hypertension
      * Familial hypopituitarism
      * Familial hypothyroidism
      * Familial interstitial fibrosis
      * Familial intestinal polyatresia syndrome
      * Familial Mediterranean fever
      * Familial multiple trichodiscomas
      * Familial myelofibrosis
      * Familial nasal acilia
      * Familial neurocardiogenic syncope
      * Familial non-immune hyperthyroidism
      * Familial opposable triphalangeal thumbs duplication
      * Familial partial paralysis
      * Familial periodic paralysis
      * Familial polyposis
      * Familial porencephaly
      * Familial renal cell carcinoma
      * Familial streblodactyly
      * Familial symmetric lipomatosis
      * Familial Treacher Collins syndrome
      * Familial veinous malformations
      * Familial ventricular tachycardia
      * Familial visceral myopathy
      * Familial Wilms tumor 2
      * Fanconi anemia type 1
      * Fanconi anemia type 2
      * Fanconi anemia type 3
      * Fanconi Bickel syndrome
      * Fanconi ichthyosis dysmorphism
      * Fanconi like syndrome
      * Fanconi pancytopenia
      * Fanconi renotubular syndrome
      * Fanconi's anemia
      * Fara Chlupackova syndrome
      * Farber's disease
      * Farmer's lung
      * Fascioliasis
      * Fatal familial insomnia
      * Faulk Epstein Jones syndrome
      * Faye-Petersen Ward Carey syndrome
      * Fazio Londe syndrome
      * Fealty syndrome
      * Febrile Ulceronecrotic Mucha-Habermann disease
      * Fechtner syndrome
      * Feigenbaum Bergeron Richardson syndrome
      * Feigenbaum Bergeron syndrome
      * Feingold Trainer syndrome
      * Felty's Syndrome
      * Female pseudohermaphrodism
      * Female pseudohermaphrodism Genuardi type
      * Femoral facial syndrome
      * Femur bifid with monodactylous ectrodactyly
      * Femur fibula ulna syndrome
      * Fenton Wilkinson Toselano syndrome
      * Ferlini Ragno Calzolari syndrome
      * Fernhoff Blackston Oakley syndrome
      * Fertile eunuch syndrome
      * Fetal acitretin syndrome
      * Fetal akinesia syndrome X-linked
      * Fetal akinesia syndrome, X-linked
      * Fetal alcohol syndrome
      * Fetal aminopterin syndrome
      * Fetal and neonatal alloimmune thrombocytopenia
      * Fetal anticonvulsant syndrome
      * Fetal antihypertensive drugs syndrome
      * Fetal brain disruption sequence
      * Fetal cytomegalovirus syndrome
      * Fetal diethylstilbestrol syndrome
      * Fetal edema
      * Fetal enterovirus syndrome
      * Fetal hydantoin syndrome
      * Fetal indomethacin syndrome
      * Fetal iodine syndrome
      * Fetal left ventricular aneurysm
      * Fetal macrosomia
      * Fetal methimazole syndrome
      * Fetal methyl mercury syndrome
      * Fetal minoxidil syndrome
      * Fetal parainfluenza virus type 3 syndrome
      * Fetal parvovirus syndrome
      * Fetal phenothiazine syndrome
      * Fetal prostaglandin syndrome
      * Fetal thalidomide syndrome
      * Fetal warfarin syndrome
      * FG syndrome
      * FG syndrome 2
      * FG syndrome 3
      * FG syndrome 4
      * Fibrinogen deficiency, congenital
      * Fibrocartilaginous embolism
      * Fibrochondrogenesis
      * Fibrodysplasia ossificans progressiva
      * Fibrolipomatosis
      * Fibromatosis
      * Fibromatosis gingival hypertrichosis
      * Fibromatosis multiple non ossifying
      * Fibromatosis, gingival, 3
      * Fibromuscular dysplasia of arteries
      * Fibrosarcoma
      * Fibrosing alveolitis
      * Fibrous dysplasia
      * Fibrous dysplasia of bone
      * Fibula aplasia complex brachydactyly
      * Fibular aplasia
      * Fibular aplasia ectrodactyly
      * Fibular hypoplasia and complex brachydactyly
      * Fibular hypoplasia scapulo pelvic dysplasia absent
      * Filaminopathy, autosomal dominant
      * Filariasis
      * Fine-Lubinsky syndrome
      * Fingerprints absence syndactyly milia
      * Finnish lethal neonatal metabolic syndrome
      * Finnish type amyloidosis
      * Finucane Kurtz Scott syndrome
      * Fish-eye disease
      * Fissured tongue
      * Fistulous vegetative verrucous hydradenoma
      * Fitz-Hugh-Curtis syndrome
      * Fitzsimmons Walson Mellor syndrome
      * Fitzsimmons-Guilbert syndrome
      * Fitzsimmons-McLachlan-Gilbert syndrome
      * Flat umbilicus familial
      * Flaujeac factor deficiency
      * Flavimonas oryzihabitans
      * Floating-harbor syndrome
      * Florid cemento-osseous dysplasia
      * Florid cystic endosalpingiosis of the uterus
      * FLOTCH syndrome
      * Flynn Aird syndrome
      * Focal alopecia congenital megalencephaly
      * Focal cortical dysplasia of Taylor
      * Focal dermal hypoplasia
      * Focal dystonia
      * Focal facial dermal dysplasia
      * Focal or multifocal malformations in neuronal migration
      * Focal segmental glomerulosclerosis
      * Foix Chavany Marie syndrome
      * Follicle-stimulating hormone deficiency, isolated
      * Follicular dendritic cell tumor
      * Follicular hamartoma alopecia cystic fibrosis
      * Follicular ichthyosis
      * Follicular lymphoma
      * Follicular lymphoreticuloma
      * Fontaine Farriaux Blanckaert syndrome
      * Forbes Albright syndrome
      * Forestier's disease
      * Formaldehyde poisoning
      * Forney Robinson Pascoe syndrome
      * Fountain syndrome
      * Fowler Christmas Chapple syndrome
      * Fox-Fordyce disease
      * Fragile X syndrome
      * Fragile X syndrome type 1
      * Fragile X syndrome type 2
      * Fragile X syndrome type 3
      * Fragoso Cid Garcia Hernandez syndrome
      * Franceschini Vardeu Guala syndrome
      * Francois dyscephalic syndrome
      * Franek Bocker kahlen syndrome
      * Frank Ter Haar syndrome
      * Fraser Jequier Chen syndrome
      * Fraser like syndrome
      * Fraser syndrome
      * Frasier syndrome
      * FRAXD
      * FRAXE syndrome
      * Freeman-Sheldon syndrome
      * Freiberg's disease
      * Freire-Maia odontotrichomelic syndrome
      * Frenkel Russe syndrome
      * Frey's syndrome
      * Frias syndrome
      * Fried Goldberg Mundel syndrome
      * Friedel Heid Grosshans syndrome
      * Friedman Goodman syndrome
      * Friedreich ataxia
      * Friedreich ataxia congenital glaucoma
      * Frints De Smet Fabry Fryns syndrome
      * Froelich's syndrome
      * Frolich's syndrome
      * Fronto nasal malformation cloacal exstrophy
      * Fronto-facio-nasal dysplasia
      * Frontofacionasal dysplasia type Al gazali
      * Frontometaphyseal dysplasia
      * Frontonasal dysplasia
      * Frontonasal dysplasia acromelic
      * Frontonasal dysplasia klippel feil syndrome
      * Frontonasal dysplasia phocomelic upper limbs
      * Frontotemporal dementia
      * Frontotemporal dementia, ubiquitin-positive
      * Froster huch syndrome
      * Froster Iskenius Waterson syndrome
      * Fructose intolerance
      * Fructose-1,6-bisphosphatase deficiency
      * Fructose-1-phosphate aldolase deficiency, heredita
      * Fructosemia, hereditary
      * Fructosuria
      * Frydman Cohen Ashenazi syndrome
      * Frydman Cohen Karmon syndrome
      * Fryer syndrome
      * Fryns Fabry Remans syndrome
      * Fryns Hofkens Fabry syndrome
      * Fryns smeets thiry syndrome
      * Fryns syndrome
      * Fuchs atrophia gyrata chorioideae et retinae
      * Fucosidosis
      * Fucosidosis type 1
      * Fuhrmann syndrome
      * Fukuda Miyanomae Nakata syndrome
      * Fukuyama type muscular dystrophy
      * Fumaric aciduria
      * Functioning pancreatic endocrine tumor
      * Fuqua Berkovitz syndrome
      * Furlong syndrome
      * Furukawa Takagi Nakao syndrome
      * Furunculous myiasis
      * Fused mandibular incisors



      G


      * Galactocele
      * Galactokinase deficiency
      * Galactorrhoea-Hyperprolactinaemia
      * Galactosamine-6-sulfatase deficiency
      * Galactose epimerase deficiency
      * Galactosemia
      * Gall bladder cancer
      * Game Friedman Paradice syndrome
      * Gamma aminobutyric acid transaminase deficiency
      * Gamma-cystathionase deficiency
      * Gamstorp episodic adynamy
      * Ganglioglioma
      * Gangliosidosis generalized GM1, type 1
      * Gangliosidosis GM1 type 3
      * Gangliosidosis, generalized GM1 type 2
      * GAPO syndrome
      * Gardner Morrisson Abbot syndrome
      * Gardner-Diamond syndrome
      * Gardner's syndrome
      * Garret Tripp syndrome
      * Gas bloat syndrome
      * Gastric lymphoma
      * Gastritis, familial giant hypertrophic
      * Gastrocutaneous syndrome
      * Gastro-enteropancreatic neuroendocrine tumor
      * Gastrointestinal Stromal Tumors
      * Gastroschisis
      * Gaucher Disease
      * Gaucher disease type 1
      * Gaucher disease type 2
      * Gaucher disease type 3
      * Gaucher ichthyosis restrictive dermopathy
      * Gaucher-like disease
      * Gay Feinmesser Cohen syndrome
      * Gelatinous ascites
      * Geleophysic dwarfism
      * Gelineau's syndrome
      * Gemignani syndrome
      * GEMSS syndrome
      * Genee-Wiedemann syndrome
      * Generalized resistance to thyroid hormone
      * Generalized torsion dystonia
      * Genetic reflex epilepsy
      * Geniospasm
      * Genital dwarfism
      * Genital dwarfism, Turner type
      * Genito palato cardiac syndrome
      * Genoa syndrome
      * Genu valgum, st Helena familial
      * Genu varum
      * Geographic tongue
      * German syndrome
      * Germinal cell aplasia
      * Gerodermia osteodysplastica
      * Gershinibaruch Leibo syndrome
      * Gertsmann syndrome
      * Gestational pemphigoid
      * Gestational trophoblastic disease
      * Gestational Trophoblastic Neoplasms
      * Ghosal syndrome
      * Ghose Sachdev Kumar syndrome
      * Gianotti-Crosti syndrome
      * Giant axonal neuropathy
      * Giant cell myocarditis
      * Giant congenital nevi
      * Giant ganglionic hyperplasia
      * Giant hypertrophic gastritis
      * Giant mammary hamartoma
      * Giant papillary conjunctivitis
      * Giant pigmented hairy nevus
      * Giant platelet syndrome
      * Giedion syndrome
      * Gigantism
      * Gigantism advanced bone age hoarse cry
      * Gigantomastia
      * Gilbert's syndrome
      * Gingival fibromatosis dominant
      * Gingival fibromatosis facial dysmorphism
      * Gingival fibrosis
      * Gitelman syndrome
      * Glanders
      * Glass Chapman Hockley syndrome
      * Glassy cell carcinoma of the cervix
      * Glaucoma 3, primary infantile, B
      * Glaucoma iridogoniodysgenesia
      * Glaucoma sleep apnea
      * Glaucoma type 1C
      * Glaucoma, congenital
      * Glaucoma, hereditary
      * Glaucoma, hereditary adult type 1A
      * Glaucoma, hereditary juvenile type 1B
      * Glaucoma, primary infantile type 3A
      * Glioblastoma
      * Glioblastoma multiforme
      * Glioma
      * Gliomatosis cerebri
      * Gliosarcoma
      * Global disaccharide intolerance
      * Glomerulonephritis
      * Glomerulonephritis sparse hair telangiectases
      * Glomerulopathy with fibronectin deposits
      * Glomus tympanicum
      * Glomus vagale tumors
      * Gloomy face syndrome
      * Glossodynia
      * Glossopalatine ankylosis micrognathia ear anomalies
      * Glossopharyngeal neuralgia
      * Glucagonoma
      * Glucagonoma syndrome
      * Glucocorticoid deficiency, familial
      * Glucocorticoid resistance
      * Glucocorticoid sensitive hypertension
      * Glucose 6 phosphate dehydrogenase deficiency
      * Glucose transport defect, blood-brain barrier
      * Glucose-6-phosphate translocase deficiency
      * Glucose-galactose malabsorption
      * Glucosephosphate isomerase deficiency
      * Glucosidase acid-1,4-alpha deficiency
      * Glut2 deficiency
      * Glutamate decarboxylase deficiency
      * Glutamate-aspartate transport defect
      * Glutamine deficiency, congenital
      * Glutamine deficiency, congenital
      * Glutaric aciduria 1
      * Glutaric aciduria 2
      * Glutathione synthetase deficiency
      * Glutathionuria
      * Glyceraldehyde-3-phosphate dehydrogenase deficiency
      * Glycine encephalopathy
      * Glycine synthase deficiency
      * Glycogen storage disease type 1B
      * Glycogen storage disease type 1C
      * Glycogen storage disease type 1D
      * Glycogen storage disease type 2
      * Glycogen storage disease type 2B
      * Glycogen storage disease type 3
      * Glycogen storage disease type 4
      * Glycogen storage disease type 5
      * Glycogen storage disease type 6
      * Glycogen storage disease type 6, due to phosphorylation
      * Glycogen storage disease type 7
      * Glycogenosis type 2
      * Glycogenosis type 3
      * Glycogenosis type 4
      * Glycogenosis type 5
      * Glycogenosis type 6
      * Glycogenosis type 7
      * Glycogenosis type 8
      * Glycogenosis, type 0
      * Glycosylphosphatidylinositol deficiency
      * GM2 gangliosidosis, 0 variant
      * GM2-gangliosidosis, B, B1, AB variant
      * Gms syndrome
      * Gnathostoma Infection
      * Goldberg-Shprintzen megacolon syndrome
      * Goldblatt Wallis syndrome
      * Goldblatt Viljoen syndrome
      * Goldenhar disease
      * Goldstein Hutt syndrome
      * Gollop Coates syndrome
      * Gollop syndrome
      * GOMBO syndrome
      * Gomez Lopez Hernandez syndrome
      * Gonadal dysgenesis
      * Gonadal dysgenesis mixed
      * Gonadal dysgenesis Turner type
      * Gonadal dysgenesis XY type associated anomalies
      * Gonadal dysgenesis, XX type
      * Gonadal dysgenesis, XY female type
      * Goniodysgenesis mental retardation short stature
      * Gonococcal conjunctivitis
      * Gonzales Del Angel syndrome
      * Good syndrome
      * Goodman camptodactyly
      * Goodpasture syndrome
      * Gordon hyperkaliemia-hypertension syndrome
      * Gordon syndrome
      * Gorham syndrome
      * Gorlin Bushkell Jensen syndrome
      * Gorlin Chaudhry Moss syndrome
      * Gouty nephropathy, familial
      * Gracile bone dysplasia
      * Graft versus host disease
      * Graham Boyle Troxell syndrome
      * Grand Kaine Fulling syndrome
      * Grant syndrome
      * Granulocytopenia
      * Granuloma annulare
      * Granulomas, congenital cerebral
      * Granulomatous Angiitis of the Central Nervous System
      * Granulomatous hypophysitis
      * Granulomatous rosacea
      * Granulosa cell tumor of the ovary
      * Graphite Pneumoconiosis
      * Graves' disease
      * Gray platelet syndrome
      * Great vessels transposition
      * Green Sandford Davison syndrome
      * Greenberg dysplasia
      * Greig cephalopolysyndactyly syndrome
      * Griscelli syndrome type 1
      * Griscelli syndrome type 2
      * Griscelli syndrome type 3
      * Grix Blankenship Peterson syndrome
      * Groenouw type I corneal dystrophy
      * Groll Hirschowitz syndrome
      * Grosse syndrome
      * Group B strep disease in newborns
      * Grover's disease
      * Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate
      * Growth deficiency brachydactyly unusual facies
      * Growth hormone deficiency
      * Growth mental deficiency syndrome of Myhre
      * Growth retardation alopecia pseudoanodontia optic
      * Growth retardation hydrocephaly lung hypoplasia
      * Growth retardation mental retardation phalangeal hypoplasia
      * Grubben de Cock Borghgraef syndrome
      * GTP cyclohydrolase deficiency
      * Guanidinoacetate methyltransferase deficiency
      * Guérin-Stern syndrome
      * Guillain-Barre syndrome
      * Guizar Vasquez Sanchez Manzano syndrome
      * Gupta Patton syndrome
      * Gurrieri Sammito Bellussi syndrome
      * Gusher syndrome
      * Gynandroblastoma

    4. #4
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      H


      * Haemophilus influenzae
      * Hagemoser Weinstein Bresnick syndrome
      * Hailey Hailey disease
      * Haim-Munk syndrome
      * Hair defect with photosensitivity and mental retardation
      * HAIR-AN syndrome
      * Hairy cell leukemia
      * Hairy elbows
      * Hairy nose tip
      * Hairy palms and soles
      * Hairy tongue
      * Hajdu-Cheney syndrome
      * Halal Setton Wang syndrome
      * Halal syndrome
      * Hall Riggs mental retardation syndrome
      * Hallervorden-Spatz disease
      * Halo nevi
      * Hamanishi Ueba Tsuji syndrome
      * Hamano Tsukamoto syndrome
      * Hamman-Rich syndrome
      * Hand and foot deformity with flat facies
      * Hand foot uterus syndrome
      * Hand-Schuller-Christian disease
      * Hanhart syndrome
      * Hantavirosis
      * Hantavirus pulmonary syndrome
      * Hard skin syndrome Parana type
      * HARD syndrome
      * Hardikar syndrome
      * Harding ataxia
      * Harlequin ichthyosis
      * Harlequin syndrome
      * Harrod Doman Keele syndrome
      * Hartnup disease
      * Hashimoto-Pritzker syndrome
      * Hashimoto's encephalitis
      * Hashimoto's syndrome
      * Haspeslagh Fryns Muelenaere syndrome
      * Hawkinsinuria
      * Hay Wells syndrome recessive type
      * Hay-Wells syndrome
      * Heart block progressive, familial
      * Heart defect, tongue hamartoma and polysyndactyly
      * Heart defects limb shortening
      * Heart tumor
      * Heart-hand syndrome, Slovenian type
      * Heart-hand syndrome,Spanish type
      * Heavy metal poisoning
      * HEC syndrome
      * Hecht Scott syndrome
      * Hecht syndrome
      * HELLP syndrome
      * Helminthiasis
      * HEM dysplasia
      * Hemangioblastoma
      * Hemangioendothelioma
      * Hemangioma thrombocytopenia syndrome
      * Hemangioma, capillary infantile
      * Hemangiomatosis, familial pulmonary capillary
      * Hemangiopericytoma
      * Hemeralopia, congenital essential
      * Hemeralopia, familial
      * Hemi 3 syndrome
      * Hemifacial atrophy agenesis of the caudate nucleus
      * Hemifacial hyperplasia strabismus
      * Hemifacial myohyperplasia
      * Hemihypertrophy in context of NF
      * Hemihypertrophy intestinal web corneal opacity
      * Hemimegalencephaly
      * Hemiplegia
      * Hemiplegic migraine, familial type 1
      * Hemiplegic migraine, familial type 2
      * Hemochromatosis, type 2
      * Hemochromatosis, type 3
      * Hemochromatosis, type 4
      * Hemoglobin C disease
      * Hemoglobin E disease
      * Hemoglobin SC disease
      * Hemoglobin Zurich
      * Hemoglobinemia
      * Hemoglobinopathy
      * Hemoglobinuria
      * Hemolytic anemia lethal genital anomalies
      * Hemolytic uremic syndrome, atypical, childhood
      * Hemolytic-uremic syndrome
      * Hemophagocytic lymphohistiocytosis
      * Hemophagocytic lymphohistiocytosis, familial, 2
      * Hemophagocytic lymphohistiocytosis, familial, 3
      * Hemophagocytic lymphohistiocytosis, familial, 4
      * Hemophagocytic reticulosis
      * Hemophilia A, congenital
      * Hemophilia B
      * Hemophilic arthropathy
      * Hemorrhagic fever
      * Hemorrhagic proctocolitis
      * Hemorrhagic shock and encephalopathy syndrome
      * Hemorrhagic thrombocythemia
      * Hemorrhagiparous thrombocytic dystrophy
      * Hemosiderosis
      * Hennekam Beemer syndrome
      * Hennekam Koss de Geest syndrome
      * Hennekam lymphangiectasia lymphedema syndrome
      * Hennekam syndrome
      * Hennekam Van der Horst syndrome
      * Henoch-Schonlein purpura
      * Hepadnovirus D
      * Heparane sulfamidase deficiency
      * Heparin induced thrombocytopenia
      * Hepatic cystic hamartoma
      * Hepatic fibrosis
      * Hepatic fibrosis renal cysts mental retardation
      * Hepatic venoocclusive disease
      * Hepatic venoocclusive disease with immunodeficiency
      * Hepatitis E
      * Hepatitis X (non-A,-B,-C,-D,-E)
      * Hepatoblastoma
      * Hepatocellular carcinoma
      * Hepatocellular carcinoma (fibrolamellar variant)
      * Hepatoerythropoietic porphyria
      * Hepatorenal syndrome
      * Hereditary amyloidosis
      * Hereditary angioedema
      * Hereditary ataxia
      * Hereditary carnitine deficiency
      * Hereditary cerebellar ataxia syndrome of early onset
      * Hereditary deafness
      * Hereditary elliptocytosis
      * Hereditary fructose intolerance
      * Hereditary hearing disorder
      * Hereditary hearing loss
      * Hereditary hemorrhagic telangiectasia
      * Hereditary hyperuricemia
      * Hereditary koilonychia
      * Hereditary macrothrombocytopenia
      * Hereditary methemoglobinemia, recessive
      * Hereditary myopathy with intranuclear filamentous
      * Hereditary nodular heterotopia
      * Hereditary nonpolyposis colon cancer
      * Hereditary non-spherocytic hemolytic anemia
      * Hereditary pancreatitis
      * Hereditary paroxysmal cerebral ataxia
      * Hereditary peripheral nervous disorder
      * Hereditary primary Fanconi disease
      * Hereditary resistance to anti-vitamin K
      * Hereditary sensory and autonomic neuropathy 3
      * Hereditary sensory and autonomic neuropathy type 2
      * Hereditary sensory neuropathy type 2
      * Hereditary spastic paralysis, infantile onset ascending
      * Hereditary spastic paraplegia
      * Hereditary spherocytic hemolytic anemia
      * Hereditary spherocytosis
      * Hereditary type 1 neuropathy
      * Hereditary type 2 neuropathy
      * Hermansky Pudlak syndrome 2
      * Hermansky-Pudlak syndrome
      * Hermaphroditism
      * Hernandez Aguirre-Negrete syndrome
      * Herpes simiae (B virus)
      * Herpes simplex encephalitis
      * Herpes virus antenatal infection
      * Herpes zoster ophthalmicus
      * Herpesvirus simiae B virus
      * Herpetic embryopathy
      * Herpetic keratitis
      * Herrmann Opitz arthrogryposis syndrome
      * Herrmann Opitz craniosynostosis
      * Herrmann syndrome
      * Hersh Podruch Weisskopk syndrome
      * Heterochromia iridis
      * Heterotaxia autosomal dominant type
      * Heterotaxy with polysplenia or asplenia
      * Heterotaxy, visceral, X-linked
      * HHV-6 encephalitis
      * Hiccups, intractable
      * Hidradenitis suppurativa, familial
      * High-molecular-weight kininogen deficiency, congenital
      * Hillig syndrome
      * Hing Torack Dowston syndrome
      * Hinson-Pepys disease
      * Hip dislocation
      * Hip Dysplasia
      * Hip dysplasia Beukes type
      * Hip luxation
      * Hip subluxation
      * Hipo syndrome
      * Hirschsprung disease ganglioneuroblastoma
      * Hirschsprung disease polydactyly heart disease
      * Hirschsprung disease type 2
      * Hirschsprung disease type 3
      * Hirschsprung disease type d brachydactyly
      * Hirschsprung microcephaly cleft palate
      * Hirschsprung nail hypoplasia dysmorphism
      * Hirschsprung's disease
      * Hirsutism congenital gingival hyperplasia
      * Hirsutism skeletal dysplasia mental retardation
      * His bundle tachycardia
      * Histidinemia
      * Histidinuria renal tubular defect
      * Histiocytosis with joint contractures and sensorineural deafness
      * Histiocytosis X
      * Histiocytosis, Non-Langerhans-Cell
      * Hittner Hirsch Kreh syndrome
      * Hm syndrome
      * HMG CoA lyase deficiency
      * HMG CoA synthetase deficiency
      * Ho Kaufman Mcalister syndrome
      * Hodgkin disease, X-linked pseudoautosomal
      * Hodgkin lymphoma, adult
      * Hodgkin lymphoma, childhood
      * Hodgkin lymphoma, during pregnancy
      * Hodgkin's disease
      * Hollow visceral myopathy
      * Holmes Borden syndrome
      * Holmes Collins syndrome
      * Holoacardius amorphus
      * Holocarboxylase synthetase deficiency
      * Holoprosencephaly
      * Holoprosencephaly caudal dysgenesis
      * Holoprosencephaly deletion 2p
      * Holoprosencephaly ectrodactyly cleft lip palate
      * Holoprosencephaly radial heart renal anomalies
      * Holoprosencephaly, recurrent infections, and monocytosis
      * Holt-Oram syndrome
      * Holzgreve Wagner Rehder syndrome
      * Homocarnosinosis
      * Homocystinuria
      * Homocystinuria due to defect in methylation (cbl g)
      * Homocystinuria due to defect in methylation cbl e
      * Homocystinuria due to defect in methylation, MTHFR deficiency
      * Homologous wasting disease
      * Homozygous hypobetalipoproteinemia
      * Hooft disease
      * Hoon Hall syndrome
      * Hordnes Engebretsen Knudtson syndrome
      * Horn Kolb syndrome
      * Horner's syndrome
      * Hornova Dlurosova syndrome
      * Horseshoe kidney
      * Horton’s disease
      * Houlston Ironton Temple syndrome
      * Howard Young syndrome
      * Hoyeraal Hreidarsson syndrome
      * Hoyeraal syndrome
      * Human granulocytic ehrlichiosis
      * Human monocytic ehrlichiosis
      * Human parvovirus B19 infection
      * Human spumaretrovirus infection
      * Human T Cell Leukemia Virus 1
      * Human T-cell leukemia viruses type 2
      * Human T-lymphotropic virus type 3
      * Humeroradial synostosis
      * Humeroradioulnar synostosis
      * Humerus trochlea aplasia of
      * Hunter Carpenter Macdonald syndrome
      * Hunter Jurenka Thompson syndrome
      * Hunter Macpherson syndrome
      * Hunter Mcdonald syndrome
      * Hunter Rudd Hoffmann syndrome
      * Hunter syndrome
      * Hunter-McAlpine syndrome
      * Huntington disease
      * Hurler syndrome
      * Hurst Hallam Hockey syndrome
      * Hutchinson Gilford progeria syndrome
      * Hutchinson incisors
      * Hutterite cerebroosteonephrodysplasia syndrome
      * Hutteroth Spranger syndrome
      * Hyalinosis systemic short stature
      * Hyaloideoretinal degeneration of Wagner
      * Hydatidosis
      * Hyde Forster Mccarthy Berry syndrome
      * Hydranencephaly
      * Hydroa vacciniforme
      * Hydroa vacciniforme, familial
      * Hydrocephalus
      * Hydrocephalus autosomal recessive
      * Hydrocephalus costovertebral dysplasia Sprengel anomaly
      * Hydrocephalus craniosynostosis bifid nose
      * Hydrocephalus due to congenital stenosis of aqueduct of sylvius
      * Hydrocephalus endocardial fibroelastosis cataract
      * Hydrocephalus growth retardation skeletal anomalies
      * Hydrocephalus obesity hypogonadism
      * Hydrocephalus skeletal anomalies
      * Hydrocephaly corpus callosum agenesis diaphragmatic hernia
      * Hydrocephaly low insertion umbilicus
      * Hydrocephaly tall stature joint laxity
      * Hydrolethalus syndrome
      * Hydronephrosis congenital
      * Hydronephrosis peculiar facial expression
      * Hydrops ectrodactyly syndactyly
      * Hydrops fetalis
      * Hydrops fetalis anemia immune disorder absent thumb
      * Hydroxyacyl-coa dehydrogenase, type 2, deficiency
      * Hydroxycarboxylic aciduria
      * Hydroxykynureninuria
      * Hygroma cervical
      * Hymenolepiasis
      * Hyper IgE
      * Hyper IgM syndrome
      * Hyperacusis
      * Hyperadrenalism
      * Hyperaldosteronism
      * Hyperaldosteronism familial type 2
      * Hyperaldosteronism, familial type 1
      * Hyperammonemia
      * Hyperandrogenism
      * Hyperbilirubinemia transient familial neonatal
      * Hyperbilirubinemia type 1
      * Hyperbilirubinemia type 2
      * Hypercalcinuria macular coloboma
      * Hypercalciuria, childhood idiopathic
      * Hypercementosis
      * Hypercholesterolemia, autosomal dominant
      * Hypercholesterolemia, autosomal dominant, type B
      * Hyperchylomicronemia
      * Hypereosinophilic syndrome
      * Hyperexplexia hereditary
      * Hyperferritinemia, hereditary, with congenital cataracts
      * Hyperglycerolemia
      * Hyperglycinemia, isolated nonketotic
      * Hyperglycinemia, isolated nonketotic type 1
      * Hyperglycinemia, isolated nonketotic type 2
      * Hypergonadotropic ovarian failure, familial or sporadic
      * Hyperhomocysteinemia
      * Hyper-IgD syndrome
      * Hyperimidodipeptiduria
      * Hyperimmunoglobinemia D with recurrent fever
      * Hyperimmunoglobulin E - reccurrent infection syndrome
      * Hyperimmunoglobulinemia D with periodic fever
      * Hyperimmunoglobulinemia E
      * Hyperinsulinemic hypoglycemia, familial, 1
      * Hyperinsulinemic hypoglycemia, familial, 2
      * Hyperinsulinemic hypoglycemia, familial, 3
      * Hyperinsulinemic hypoglycemia, familial, 6
      * Hyperinsulinemic hypoglycemia, familial, 7
      * Hyperinsulinism due to focal adenomatous hyperplasia
      * Hyperinsulinism due to glucokinase deficiency
      * Hyperinsulinism due to glutamodehydrogenase deficiency
      * Hyperinsulinism in children, congenital
      * Hyperinsulinism, diffuse
      * Hyperinsulinism, focal
      * Hyperkalemic periodic paralysis
      * Hyperkeratosis lenticularis perstans
      * Hyperkeratosis palmoplantar localized acanthokeratolytic
      * Hyperkeratosis palmoplantar localized epidermolytic
      * Hyperkeratosis palmoplantar with palmar crease hyperkeratosis
      * Hyperlipoproteinemia type 1
      * Hyperlipoproteinemia type 2
      * Hyperlipoproteinemia type 3
      * Hyperlipoproteinemia type 5
      * Hyperlysinemia
      * Hyperornithinemia
      * Hyperornithinemia-hyperammonemia-homocitrullinuria
      * Hyperostosis cortical infantile
      * Hyperostosis corticalis generalisata
      * Hyperostosis-hyperphosphatemia syndrome
      * Hyperoxaluria
      * Hyperparathyroidism, familial, primary
      * Hyperparathyroidism, neonatal severe primary
      * Hyperparathyroidism, primary
      * Hyperphalangism dysmorphy bronchomalacia
      * Hyperphenilalaninemia due to pterin-4-alpha-carbin
      * Hyperphenylalalinemia due to dihydropteridine reductase deficiency
      * Hyperphenylalaninemia due to dehydratase deficiency
      * Hyperphenylalaninemia due to GTP cyclohydrolase deficiency
      * Hyperphenylalaninemia with primapterinuria
      * Hyperphenylalaninemic embryopathy
      * Hyperpipecolatemia
      * Hyperprolactinemia
      * Hyperprolinemia
      * Hyperprolinemia type 2
      * Hyper-reninism
      * Hypersomnolence, idiopathic
      * Hypertelorism and tetralogy of Fallot
      * Hypertelorism with esophageal abnormality and hypospadias
      * Hypertensive hypokalemia familial
      * Hyperthermia induced defects
      * Hyperthyroidism due to mutations in TSH receptor
      * Hypertrichosis atrophic skin ectropion macrostomia
      * Hypertrichosis brachydactyly obesity and mental retardation
      * Hypertrichosis congenital generalized X-linked
      * Hypertrichosis lanuginosa congenita
      * Hypertrichosis lanuginosa, acquired
      * Hypertrichosis retinopathy dysmorphism
      * Hypertrichosis, anterior cervical
      * Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features
      * Hypertrophic branchial myopathy
      * Hypertrophic hemangiectasia
      * Hypertrophic neuropathy of Dejerine-Sottas
      * Hypertrophic osteoarthropathy, primary or idiopathic
      * Hypertryptophanemia
      * Hypoadrenalism
      * Hypoadrenocorticism hypoparathyroidism moniliasis
      * Hypoaldosteronism
      * Hypoalphalipoproteinemia, primary
      * Hypobetalipoproteinaemia ataxia hearing loss
      * Hypobetalipoprotéinemia, familial
      * Hypocalcemia, autosomal dominant
      * Hypocalciuric hypercalcemia, familial, type 1
      * Hypocalciuric hypercalcemia, familial, type 2
      * Hypocalciuric hypercalcemia, familial, type 3
      * Hypochondrogenesis
      * Hypochondroplasia
      * Hypocomplementemic urticarial vasculitis
      * Hypodermyasis
      * Hypodontia dysplasia of nails
      * Hypodontia of incisors and premolars
      * Hypodontia, X-linked
      * Hypofibrinogenemia, familial
      * Hypogammaglobulinemia and Isolated growth hormone deficiency, X-linked
      * Hypoglycemia with deficiency of glycogen synthetase in the liver
      * Hypoglycemia, leucine-induced
      * Hypogonadism cardiomyopathy
      * Hypogonadism hypogonadotropic due to mutations in GR hormone
      * Hypogonadism male mental retardation skeletal anomaly
      * Hypogonadism mitral valve prolapse mental retardation
      * Hypogonadism primary partial alopecia
      * Hypogonadism retinitis pigmentosa
      * Hypogonadism, isolated, hypogonadotropic
      * Hypogonadotropic hypogonadism syndactyly
      * Hypogonadotropic hypogonadism without anosmia, X-linked
      * Hypogonadotropic hypogonadism-anosmia
      * Hypogonadotropic hypogonadism-anosmia, X-linked
      * Hypohidrotic Ectodermal Dysplasia
      * Hypokalemia
      * Hypokalemic alkalosis with hypercalcinuria
      * Hypokalemic periodic paralysis
      * Hypoketonemic hypoglycemia
      * Hypolipoproteinemia
      * Hypomagnesemia 2, renal
      * Hypomagnesemia primary
      * Hypomandibular faciocranial dysostosis
      * Hypomelanotic disorder
      * Hypomelia mullerian duct anomalies
      * Hypoparathyroidism
      * Hypoparathyroidism familial isolated
      * Hypoparathyroidism short stature mental retardation
      * Hypoparathyroidism X-linked
      * Hypoparathyroidism-retardation-dysmorphism syndrome
      * Hypopharyngeal cancer
      * Hypophosphatasia
      * Hypophosphatemic rickets
      * Hypopigmentation oculocerebral syndrome Cross type
      * Hypopituitarism
      * Hypopituitarism micropenis cleft lip palate
      * Hypopituitarism postaxial polydactyly
      * Hypopituitary dwarfism
      * Hypoplasia hepatic ductular
      * Hypoplasia of the tibia with polydactyly
      * Hypoplastic left heart syndrome
      * Hypoplastic right heart microcephaly
      * Hypoplastic thumb mullerian aplasia
      * Hypoplastic thumbs hydranencephaly
      * Hypoproconvertinemia
      * Hypoprothrombinemia
      * Hyporeninemic hypoaldosteronism
      * Hyposmia nasal hypoplasia hypogonadism
      * Hypospadias familial
      * Hypospadias mental retardation Goldblatt type
      * Hypotelorism cleft palate hypospadias
      * Hypothalamic dysfunction
      * Hypothalamic hamartomas
      * Hypothyroidism due to iodide transport defect
      * Hypothyroidism postaxial polydactyly mental retardation
      * Hypotonia, congenital nystagmus, ataxia and abnormal auditory brainstem response
      * Hypotonic sclerotic muscular dystrophy
      * Hypotrichosis
      * Hypotrichosis mental retardation Lopes type
      * Hypotrichosis simplex
      * Hypoxanthine guanine phosphoribosyltransferase deficiency



      I


      * I cell disease
      * IBIDS syndrome
      * ICF syndrome
      * Ichthyosiform erythroderma, corneal involvement, deafness
      * Ichthyosiform erythroderma, nonbullous congenital
      * Ichthyosis alopecia eclabion ectropion mental retardation
      * Ichthyosis and male hypogonadism
      * Ichthyosis bullosa of Siemens
      * Ichthyosis cheek eyebrow syndrome
      * Ichthyosis congenita biliary atresia
      * Ichthyosis deafness mental retardation skeletal anomaly
      * Ichthyosis follicularis atrichia photophobia syndrome
      * Ichthyosis hepatosplenomegaly cerebellar degeneration
      * Ichthyosis hystrix gravior
      * Ichthyosis hystrix, Curth Macklin type
      * Ichthyosis linearis circumflexa
      * Ichthyosis male hypogonadism
      * Ichthyosis mental retardation Devriendt type
      * Ichthyosis mental retardation dwarfism renal impairment
      * Ichthyosis microphthalmos
      * Ichthyosis prematurity syndrome
      * Ichthyosis tapered fingers midline groove up
      * Ichthyosis vulgaris
      * Ichthyosis with hypotrichosis, autosomal recessive
      * Ichthyosis, erythrokeratolysis hemalis
      * Ichthyosis, keratosis follicularis spinulosa decalvans
      * Ichthyosis, mental retardation, dwarfism, and renal impairment
      * Idiopathic acute eosinophilic pneumonia
      * Idiopathic adolescent scoliosis
      * Idiopathic adult neutropenia
      * Idiopathic alveolar hypoventilation syndrome
      * Idiopathic atypical mycobacterial infection
      * Idiopathic basal ganglia calcification 1
      * Idiopathic basal ganglia calcification, childhood onset
      * Idiopathic diffuse interstitial fibrosis
      * Idiopathic dilatation of the pulmonary artery
      * Idiopathic dilation cardiomyopathy
      * Idiopathic double athetosis
      * Idiopathic edema
      * Idiopathic eosinophilic chronic pneumopathy
      * Idiopathic facial palsy
      * Idiopathic hypereosinophilic syndrome
      * Idiopathic hypertrophic subaortic stenosis (IHSS)
      * Idiopathic minimal change nephrotic syndrome
      * Idiopathic myopathy
      * Idiopathic pulmonary hemosiderosis
      * Idiopathic pulmonary hypertension
      * Idiopathic sclerosing mesenteritis
      * Idiopathic subglottic tracheal stenosis
      * Iida Kannari syndrome
      * Illum syndrome
      * Ilyina Amoashy Grygory syndrome
      * Imaizumi Kuroki syndrome
      * Iminoglycinuria
      * Immotile cilia syndrome, due to defective radial spokes
      * Immotile cilia syndrome, due to excessively long cilia
      * Immotile cilia syndrome, Kartagener type
      * Immune defect due to absence of thymus
      * Immune deficiency, familial variable
      * Immune thrombocytopenia
      * Immunodeficiency with short limb dwarfism
      * Immunodeficiency without anhidrotic ectodermal dysplasia
      * Immunodeficiency, microcephaly with normal intelligence
      * Immunoglobulin a deficiency 1
      * Immunoglobulin a deficiency 2
      * Impairment of oral perception
      * Imperforate anus
      * Imperforate oropharynx costo vetebral anomalies
      * Impossible syndrome
      * Inborn amino acid metabolism disorder
      * Inborn branched chain aminoaciduria
      * Inborn renal aminoaciduria
      * Inborn urea cycle disorder
      * Incisors fused
      * Inclusion body myopathy, 2 autosomal recessive
      * Inclusion body myopathy, autosomal dominant
      * Inclusion conjunctivitis
      * Incontinentia pigmenti
      * Indomethacin antenatal infection
      * Infant epilepsy with migrant focal crisis
      * Infantile apnea
      * Infantile axonal neuropathy
      * Infantile convulsions and paroxysmal choreoathetosis, familial
      * Infantile digital fibromatosis
      * Infantile dysphagia
      * Infantile multisystem inflammatory disease
      * Infantile myofibromatosis
      * Infantile onset spinocerebellar ataxia
      * Infantile polymyoclonus
      * Infantile recurrent chronic multifocal osteomyolitis
      * Infantile sialic acid storage disorder
      * Infantile spasms
      * Infantile spasms broad thumbs
      * Infantile striato thalamic degeneration
      * Infection with Mycobacterium marinum
      * Infectious arthritis
      * Infectious myocarditis
      * Infective endocarditis
      * Infective myositis
      * Inflammatory breast cancer
      * Infundibulopelvic dysgenesis
      * Insensitivity to pain, congenital, with anhidrosis
      * Insulinoma
      * Insulin-resistance type B
      * Insulin-resistant acanthosis nigricans, type A
      * Intercellular cholesterol esterification disease
      * Interferon gamma, receptor 1, deficiency
      * Internal carotid agenesis
      * Intervertebral disc disease
      * Intestinal atresia multiple
      * Intestinal malrotation facial anomalies familial type
      * Intestinal pseudo-obstruction
      * Intestinal pseudoobstruction chronic idiopathic
      * Intracranial aneurysms multiple congenital anomaly
      * Intracranial arachnoid cysts
      * Intracranial arteriovenous malformation
      * Intrahepatic cholangiocarcinoma
      * Intraocular melanoma
      * Intrathoracic kidney vertebral fusion
      * Intrauterine growth retardation mandibular malar hypoplasia
      * Intrauterine infections
      * Intrinsic factor, congenital deficiency of
      * Iodine antenatal infection
      * Iridocyclitis
      * Iridogoniodysgenesis and skeletal anomalies
      * Iridogoniodysgenesis type1
      * Iridogoniodysgenesis, dominant type
      * Iris dysplasia hypertelorism deafness
      * Iris hypoplasia and glaucoma
      * Irons Bhan syndrome
      * Isaacs syndrome
      * Ischiadic hypoplasia renal dysfunction immunodeficiency
      * Ischiopatellar dysplasia
      * Isobutyryl-CoA dehydrogenase deficiency
      * Isosporosiasis
      * Isotretinoin embryopathy like syndrome
      * Isthmian coarctation
      * Ivemark syndrome
      * IVIC syndrome



      J


      * Jackson-Weiss syndrome
      * Jacobs syndrome
      * Jacobsen syndrome
      * Jadassohn Lewandowsky syndrome
      * Jaffer Beighton syndrome
      * Jamaican vomiting sickness
      * Jankovic Rivera syndrome
      * Jansen type metaphyseal chondrodysplasia
      * Japanese encephalitis
      * Jarcho-Levin syndrome
      * Jejunal atresia
      * Jejunal atresia with renal adysplasia
      * Jensen syndrome
      * Jequier Kozlowski skeletal dysplasia
      * Jervell Lange-Nielsen syndrome
      * Jeune syndrome
      * Jeune syndrome situs inversus
      * Job syndrome
      * Johanson Blizzard syndrome
      * Johnson Hall Krous syndrome
      * Johnson Munson syndrome
      * Johnson neuroectodermal syndrome
      * Johnston Aarons Schelley syndrome
      * Joint laxity, familial
      * Jones Hersh Yusk syndrome
      * Jones syndrome
      * Jorgenson Lenz syndrome
      * Joubert syndrome 1
      * Joubert syndrome 2
      * Joubert syndrome 3
      * Joubert syndrome 4
      * Joubert syndrome 5
      * Joubert syndrome 6
      * Juberg Hayward syndrome
      * Juberg Marsidi syndrome
      * Judge Misch Wright syndrome
      * Jumping Frenchmen of Maine
      * Jung Wolff Back Stahl syndrome
      * Juvenile dermatomyositis
      * Juvenile gout
      * Juvenile hyaline fibromatosis
      * Juvenile macular degeneration and hypotrichosis
      * Juvenile myelomonocytic leukemia
      * Juvenile myoclonic epilepsy
      * Juvenile nephronophthisis
      * Juvenile osteoporosis
      * Juvenile Paget disease
      * Juvenile pilocytic astrocytoma
      * Juvenile polyposis syndrome
      * Juvenile Scleroderma
      * Juvenile temporal arteritis
      * Juvenile-onset dystonia



      K


      * Kabuki syndrome
      * Kaler Garrity Stern syndrome
      * Kallikrein hypertension
      * Kallmann syndrome 2
      * Kallmann syndrome, type 1, X-linked
      * Kallmann syndrome, type 3, recessive
      * Kantaputra Gorlin syndrome
      * Kanzaki disease
      * Kaolin pneumoconiosis
      * Kaplan Plauchu Fitch syndrome
      * Kaplowitz Bodurtha syndrome
      * Kaposi sarcoma
      * Kaposiform Hemangioendothelioma
      * Kapur Toriello syndrome
      * Karandikar Maria Kamble syndrome
      * Kartagener syndrome
      * Kashani Strom Utley syndrome
      * Kasznica Carlson Coppedge syndrome
      * Katsantoni Papadakou Lagoyanni syndrome
      * Kaufman oculocerebrofacial syndrome
      * Kawasaki syndrome
      * KBG syndrome
      * Kearns Sayre syndrome
      * Kennedy disease
      * Kennerknecht Sorgo Oberhoffer syndrome
      * Kennerknecht Vogel syndrome
      * Kenny Caffey syndrome
      * Kenny-Caffey syndrome, Type 1
      * Keratitis, hereditary
      * Keratoacanthoma
      * Keratoacanthoma familial
      * Keratoconjunctivitis sicca
      * Keratoconus
      * Keratoconus posticus circumscriptus
      * Keratoderma palmoplantar deafness
      * Keratoderma palmoplantar spastic paralysis
      * Keratoderma palmoplantaris transgrediens
      * Keratolytic winter erythema
      * Keratomalacia
      * Keratosis focal palmoplantar gingival
      * Keratosis follicularis dwarfism cerebral atrophy
      * Keratosis follicularis spinulosa decalvans
      * Keratosis palmoplantar periodontopathy
      * Keratosis palmoplantaris adenocarcinoma of the colon
      * Keratosis palmoplantaris papulosa
      * Keratosis palmoplantaris striata 1
      * Keratosis palmoplantaris striata 3
      * Keratosis palmoplantaris with esophageal cancer
      * Keratosis, seborrheic
      * Kerion celsi
      * Kernicterus
      * Keshan disease
      * Keutel syndrome
      * KID syndrome
      * Kidney cancer
      * Kienbock's disease
      * Kifafa seizure disorder
      * Kikuchi disease
      * Kimura disease
      * King Denborough syndrome
      * Klatskin tumor
      * Klebsiella
      * Kleeblattschaedel syndrome
      * Kleine Levin Syndrome
      * Kleiner Holmes syndrome
      * Klinefelter syndrome
      * Klinefelter syndrome, variants
      * Klippel Feil syndrome dominant type
      * Klippel Feil syndrome recessive type
      * Klippel Trenaunay syndrome
      * Klumpke paralysis
      * Kluver Bucy syndrome
      * Kniest dysplasia
      * Kniest like dysplasia lethal
      * Knobloch syndrome
      * Knuckle pads, leuconychia and sensorineural deafness
      * Kocher-Debre-Semelaigne syndrome
      * Kohler disease
      * Kohlschutter Tonz syndrome
      * Konigsmark Knox Hussels syndrome
      * Koone Rizzo Elias syndrome
      * Kosztolanyi syndrome
      * Kotzot-Richter syndrome
      * Kousseff Nichols syndrome
      * Kowarski syndrome
      * Kozlowski Brown Hardwick syndrome
      * Kozlowski Celermajer Tink syndrome
      * Kozlowski Ouvrier syndrome
      * Kozlowski Rafinski Klicharska syndrome
      * Kozlowski Tsuruta Taki syndrome
      * Kozlowski Warren Fisher syndrome
      * Kozlowski-Krajewska syndrome
      * Krabbe leukodystrophy
      * Krasnow Qazi syndrome
      * Krause-Kivlin syndrome
      * Krauss Herman Holmes syndrome
      * Krieble Bixler syndrome
      * Krukenberg carcinoma
      * Kurczynski Casperson syndrome
      * Kuskokwim disease
      * Kuster Majewski Hammerstein syndrome
      * Kuster syndrome
      * Kyasanur Forrest disease
      * Kyphomelic dysplasia
      * Kyphosis brachyphalangy optic atrophy
      * Kyrle disease

    5. #5
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      L


      * Labrador lung
      * Labyrinthitis syndrome
      * Lachiewicz Sibley syndrome
      * Lacrimoauriculodentodigital syndrome
      * Lactate dehydrogenase deficiency
      * Lactate dehydrogenase deficiency type A
      * Lactate dehydrogenase deficiency type B
      * Lactate dehydrogenase deficiency type C
      * Lactic acidosis congenital infantile
      * Ladda Zonana Ramer syndrome
      * Lafora disease
      * Lagophthalmia cleft lip palate
      * Lambdoid synostosis
      * Lambert syndrome
      * Lambert-Eaton Myasthenic Syndrome
      * Lamellar ichthyosis
      * Lamellar ichthyosis, autosomal dominant form
      * Lamellar ichthyosis, type 2
      * Lamellar ichthyosis, type 3
      * Lamellar recessive ichthyosis
      * Landau-Kleffner syndrome
      * Landouzy-Dejerine muscular dystrophy
      * Landy Donnai syndrome
      * Langer mesomelic dysplasia
      * Langer Nishino Yamaguchi syndrome
      * Langerhans cell histiocytosis
      * Laparoschisis
      * Laplane Fontaine Lagardere syndrome
      * Large B cell diffuse lymphoma
      * Large granular lymphocyte leukemia
      * Laron syndrome type 2
      * Laron-type dwarfism
      * Larsen like osseous dysplasia dwarfism
      * Larsen like syndrome, lethal type
      * Larsen syndrome
      * Larsen syndrome craniosynostosis
      * Larsen syndrome, dominant type
      * Larsen syndrome, recessive type
      * Laryngeal abductor paralysis mental retardation
      * Laryngeal carcinoma
      * Laryngeal cleft
      * Laryngeal papillomatosis
      * Laryngeal web congenital heart disease short stature
      * Laryngocele
      * Laryngomalacia
      * Laryngomalacia dominant congenital
      * Larynx atresia
      * Lassueur-Graham-Little syndrome
      * Late onset dominant cone dystrophy
      * Late-onset congenital adrenal hyperplasia
      * Lateral body wall defect
      * Lateral meningocele syndrome
      * Lateral semicircular canal malformation, familial, with external and middle ear abnormalities
      * Laterality defects dominant
      * Lathosterolosis
      * Lattice corneal dystrophy type 1
      * Lattice corneal dystrophy type 2
      * Laugier-Hunziker syndrome
      * Launois-Bensaude adenolipomatosis
      * Laurence Prosser Rocker syndrome
      * Laurin-Sandrow syndrome
      * LBWD syndrome
      * LCAD deficiency
      * LCHAD deficiency
      * Le Marec Bracq Picaud syndrome
      * Leao Ribeiro Da Silva syndrome
      * Learman syndrome
      * Leber congenital amaurosis type 3
      * Leber congenital amaurosis, type 4
      * Leber miliary aneurysm
      * Leber optic atrophy
      * Ledderhose disease
      * Left ventricle-aorta tunnel
      * Left-sided gallbladder
      * Leg absence deformity cataract
      * Legg-Calvé-Perthes syndrome
      * Legionellosis
      * Legionnaire's disease
      * Lehman syndrome
      * Leichtman Wood Rohn syndrome
      * Leifer Lai Buyse syndrome
      * Leigh syndrome
      * Leigh syndrome , French Canadian type
      * Leiner disease
      * Leiomyoma of vulva and esophagus
      * Leiomyomatosis and renal cell cancer, hereditary
      * Leiomyomatosis familial
      * Leiomyomatosis of esophagus, cataract and hematuria
      * Leiomyomatosis, esophageal and vulval, with nephropathy
      * Leiomyosarcoma
      * Leipala Kaitila syndrome
      * Leishmaniasis
      * Leisti Hollister Rimoin syndrome
      * Lemierre's syndrome
      * Lenegre disease
      * Lentiginosis in context of NF
      * Lentigo maligna melanoma
      * Lenz Majewski hyperostotic dwarfism
      * LEOPARD syndrome, 1
      * LEOPARD syndrome, 2
      * Leprechaunism
      * Leprosy
      * Leptomeningeal capillary - venous angiomatosis
      * Leptospirosis
      * Leri pleonosteosis
      * Leri-Weil syndrome
      * Lesch Nyhan syndrome
      * Lethal chondrodysplasia Moerman type
      * Lethal chondrodysplasia Seller type
      * Lethal congenital contracture syndrome 1
      * Lethal congenital contracture syndrome 2
      * Letterer-Siwe disease
      * Leucocyte adhesion defect
      * Leukemia subleukemic
      * Leukemia, B-cell, chronic
      * Leukemia, mast-cell
      * Leukemia, Myeloid
      * Leukemia, T-cell, chronic
      * Leukocyte adhesion deficiency type 1
      * Leukocytoclastic angiitis
      * Leukodystrophy
      * Leukodystrophy reunion type
      * Leukodystrophy with oligodontia
      * Leukodystrophy, psuedometachromatic
      * Leukoencephalopathy palmoplantar keratoderma
      * Leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema
      * Leukomalacia
      * Leukomelanoderma mental redardation hypotrichosis
      * Leukonychia totalis
      * Leukoplakia
      * Levator syndrome
      * Levic Stefanovic Nikolic syndrome
      * Levine Crichley syndrome
      * Levotransposition of the great arteries
      * Lewandowski Kikolich syndrome
      * Lewis Pashayan syndrome
      * Lewy body dementia
      * Leydig cells hypoplasia
      * Lhermitte-Duclos disease
      * Li Fraumeni syndrome
      * Lichen planus follicularis
      * Lichen sclerosis et atrophicus
      * Lichtenstein syndrome
      * Light chain disease
      * Limb deficiencies distal micrognathia
      * Limb dystonia
      * Limb reduction defect
      * Limb scalp and skull defects
      * Limb transversal defect cardiac anomaly
      * Limb-body wall complex
      * Limb-girdle muscular dystrophy
      * Limb-girdle muscular dystrophy autosomal dominant
      * Limb-girdle muscular dystrophy type 2A
      * Limb-girdle muscular dystrophy type 2F
      * Limb-girdle muscular dystrophy type 2H
      * Limb-girdle muscular dystrophy with delta-sarcoglyan deficiency
      * Limb-girdle muscular dystrophy, type 1B
      * Limb-girdle muscular dystrophy, type 2B
      * Limb-girdle muscular dystrophy, type 2C
      * Limb-girdle muscular dystrophy, type 2D
      * Limb-girdle muscular dystrophy, type 2E
      * Limbic encephalitis
      * Limb-mammary syndrome
      * Limited systemic sclerosis
      * Lindsay Burn syndrome
      * Lindstrom syndrome
      * Linear hamartoma syndrome
      * Linear porokeratosis
      * Lip and oral cavity cancer
      * Lip lit syndrome
      * Lipase deficiency combined
      * Lipid storage myopathy
      * Lipidosis with triglycerid storage disease
      * Lipoamide dehydrogenase deficiency
      * Lipoatrophy with diabetes, hepatic steatosis, cardiomyopathy, and leukomelanodermic papules
      * Lipodermatosclerosis
      * Lipodystrophy
      * Lipodystrophy, familial partial, type 2
      * Lipogranulomatosis
      * Lipoid congenital adrenal hyperplasia
      * Lipoid proteinosis of Urbach and Wiethe
      * Lipomatosis central non-encapsulated
      * Lipomatosis familial benign cervical
      * Lipomatous hemangiopericytoma
      * Lipomyelomeningocele
      * Lipoprotein disorder
      * Liposarcoma
      * Lissencephaly
      * Lissencephaly immunodeficiency
      * Lissencephaly syndrome type 1
      * Lissencephaly syndrome type 2
      * Lissencephaly, isolated
      * Listeria infection
      * Listeriosis
      * Littoral cell angioma of the spleen
      * Liver neoplasms
      * Lobar atrophy of brain
      * Lobstein disease
      * Localized epiphyseal dysplasia
      * Localized scleroderma
      * Locked-in syndrome
      * Lockwood Feingold syndrome
      * Loeys-Dietz syndrome
      * Loffredo Cennamo Cecio syndrome
      * Logic syndrome
      * Loiasis
      * Loin pain hematuria syndrome
      * Long QT syndrome type 1
      * Long QT syndrome type 2
      * Long QT syndrome type 3
      * Loose anagen hair syndrome
      * Loose anagene syndrome
      * Lopes Gorlin syndrome
      * Lopes Marques de Faria syndrome
      * Lopez Hernandez syndrome
      * Lou Gehrig's disease
      * Low birth weight dwarfism dysgammaglobulinemia
      * Lowe Kohn Cohen syndrome
      * Lowe oculocerebrorenal syndrome
      * Lower limb anomaly ureteral obstruction
      * Lower limb deficiency hypospadias
      * Lower mesodermal defects
      * Lowry Maclean syndrome
      * Lowry syndrome
      * Lowry Wood syndrome
      * Lowry Yong syndrome
      * Lubani Al Saleh Teebi syndrome
      * Lubinsky syndrome
      * Lubs X-linked mental retardation syndrome
      * Lucey Driscoll syndrome
      * Lucky Gelehrter syndrome
      * Lúes Congénita
      * Lujan Fryns syndrome
      * Lumbar malsegmentation short stature
      * Lundberg syndrome
      * Lung agenesis
      * Lung herniation congenital defect of sternem
      * Lurie Kletsky syndrome
      * Luteinizing hormone releasing hormone, deficiency of with ataxia
      * Lutz Richner Landolt syndrome
      * Lutz-Lewandowsky epidermodysplasia verruciformis
      * Lymph node neoplasm
      * Lymphadenopathy, angioimmunoblastic with dysproteinemia
      * Lymphangiectasia, pulmonary, congenital
      * Lymphangiectasis
      * Lymphangioleiomyomatosis
      * Lymphangioma
      * Lymphangiomatosis, pulmonary
      * Lymphatic filariasis
      * Lymphatic neoplasm
      * Lymphedema distichiasis syndrome
      * Lymphedema hereditary type 1
      * Lymphedema hereditary type 2
      * Lymphedema ptosis
      * Lymphedema, microcephaly and chorioretinopathy syndrome
      * Lymphedema, congenital
      * Lymphoblastic lymphoma
      * Lymphocytes absent
      * Lymphocytic colitis
      * Lymphocytic infiltrate of Jessner
      * Lymphocytic vasculitis
      * Lymphogranuloma venereum (LGV) (caused by Chlamydia trachomatis)
      * Lymphoid hamartoma
      * Lymphoma, AIDS-related
      * Lymphoma, gastric non Hodgkins type
      * Lymphoma, large-cell
      * Lymphoma, large-cell, immunoblastic
      * Lymphoma, small cleaved-cell, diffuse
      * Lymphoma, small cleaved-cell, follicular
      * Lymphomatoid granulomatosis
      * Lymphomatoid papulosis
      * Lymphomatous thyroiditis
      * Lymphosarcoma
      * Lynch cancer family syndrome 2
      * Lynch Lee Murday syndrome
      * Lysine alpha-ketoglutarate reductase deficiency
      * Lysinuric protein intolerance
      * Lysteria monocytoigeneses meningitis



      M


      * Mac Dermot Winter syndrome
      * Macleod Fraser syndrome
      * Macrocephaly mesodermal hamartoma spectrum
      * Macrocephaly, benign familial
      * Macrocephaly, mental retardation, short stature, spastic paraplegia and CNS malformations
      * Macrodactyly of the foot
      * Macrodactyly of the hand
      * Macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance
      * Macroglossia
      * Macrogyria, pseudobulbar palsy and mental retardation
      * Macrophagic myofasciitis
      * Macrosomia with lethal microphthalmia
      * Macrothrombocytopenia progressive deafness
      * Macular dystrophy, atypical vitelliform
      * Macular dystrophy, concentric annular
      * Macular dystrophy, corneal type 1
      * Macular dystrophy, retinal, 1, North Carolina type
      * Macules hereditary congenital hypopigmented and hyperpigmented
      * Madelung's disease
      * Madokoro Ohdo Sonoda syndrome
      * Maffucci syndrome
      * Majeed syndrome
      * Mal de debarquement
      * Malakoplakia
      * Malaria
      * Male pseudohermaphroditism due to defective LH molecule
      * Male pseudohermaphroditism/mental retardation syndrome, Verloes type
      * Malformations in neuronal migration
      * Malignant astrocytoma
      * Malignant fibrous histiocytoma
      * Malignant germ cell tumor
      * Malignant hyperthermia
      * Malignant hyperthermia arthrogryposis torticollis
      * Malignant hyperthermia susceptibility type 1
      * Malignant hyperthermia susceptibility type 2
      * Malignant hyperthermia susceptibility type 3
      * Malignant hyperthermia susceptibility type 4
      * Malignant hyperthermia susceptibility type 5
      * Malignant hyperthermia susceptibility type 6
      * Malignant mesenchymal tumor
      * Malignant mixed Mullerian tumor
      * Malignant paroxysmal ventricular tachycardia
      * Malignant Teratocarcinosarcoma
      * Mallory-Weiss syndrome
      * Malonic aciduria
      * Malouf syndrome
      * Malpuech facial clefting syndrome
      * Mandibuloacral dysplasia with type A lipodystrophy
      * Mandibuloacral dysplasia with type B lipodystrophy
      * Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive
      * Mannosidosis, beta A, lysosomal
      * Manouvrier syndrome
      * Mansonelliasis
      * Mantle cell lymphoma
      * Manz syndrome
      * Maple syrup urine disease
      * Maple syrup urine disease, type 1A
      * Maple syrup urine disease, type 1B
      * Maple syrup urine disease, type 2
      * Marburg hemorrhagic fever
      * Marchiafava Bignami disease
      * Marchiafava-Micheli disease
      * Marcus Gunn phenomenon
      * Marden Walker like syndrome
      * Marden-Walker syndrome
      * Marek disease
      * Marfan syndrome
      * Marfan Syndrome type 2
      * Marfan Syndrome type 3
      * Marfan Syndrome type 4
      * Marfan Syndrome type 5
      * Marfan-Like syndrome
      * Marfan-like syndrome, Boileau type
      * Marfanoid hypermobility
      * Marfanoid mental retardation syndrome autosomal
      * Marginal glioneuronal heterotopia
      * Marie type ataxia
      * Marie Unna congenital hypotrichosis
      * Marinesco-Sjogren syndrome
      * Marinesco-Sjogren-like syndrome (MSLS)
      * Markel Vikkula Mulliken syndrome
      * Marles Greenberg Persaud syndrome
      * Maroteaux Fonfria syndrome
      * Maroteaux Stanescu Cousin syndrome
      * Maroteaux Verloes Stanescu syndrome
      * Marphanoid syndrome type De Silva
      * Marsden Nyhan Sakati syndrome
      * Marsden syndrome
      * Marshall syndrome
      * Marshall-Smith syndrome
      * Martinez Monasterio Pinheiro syndrome
      * Martsolf syndrome
      * MASA syndrome
      * MASS syndrome
      * Massa Casaer Ceulemans syndrome
      * Mast cell disease
      * Mastocytic enterocolitis
      * Mastocytosis, cutaneous, with short stature, conductive hearing loss and microtia
      * Mastroiacovo De Rosa Satta syndrome
      * Mastroiacovo Gambi Segni syndrome
      * MAT deficiency
      * Maternal hyperphenylalaninemia
      * Maternally inherited diabetes and deafness
      * Maternally Inherited Leigh Syndrome
      * Mathieu De Broca Bony syndrome
      * Matsoukas Liarikos Giannika syndrome
      * Maturity onset diabetes of the young
      * Maumenee syndrome
      * Maxillary double lip
      * Maxillofacial dysostosis
      * Maxillonasal dysplasia, Binder type
      * May-Hegglin anomaly
      * MCAD deficiency
      * McAlister Crane syndrome
      * McCallum Macadam Johnston syndrome
      * McCune Albright syndrome
      * McDonough syndrome
      * McDowall syndrome
      * McGillivray syndrome
      * McKusick Kaufman syndrome
      * McLain Debakian syndrome
      * McPherson Clemens syndrome
      * McPherson Robertson Cammarano syndrome
      * Meacham Winn Culler syndrome
      * Meadows syndrome
      * Measles
      * Meckel syndrome type 2
      * Meckel syndrome type 3
      * Meckel syndrome type1
      * Medeira Dennis Donnai syndrome
      * Medial Medullary Syndrome
      * Median cleft lip, corpus callosum, lipoma, and skin polyps
      * Median nodule of the upper lip
      * Mediastinal endodermal sinus tumors
      * Mediastinal Fibrosis
      * Medrano Roldan syndrome
      * Medullary cystic kidney disease 1
      * Medullary sponge kidney
      * Medulloblastoma
      * Megacystis microcolon intestinal hypoperistalsis syndrome
      * Megaduodenum
      * Megaepiphyseal dwarfism
      * Megalencephalic leukoencephalopathy with subcortical cysts
      * Megalencephaly cutis marmorata telangiectatica congenita
      * Megaloblastic anemia
      * Megalocornea mental retardation syndrome
      * Megalocytic interstitial nephritis
      * Megarbane syndrome
      * Mehes syndrome
      * Mehta Lewis Patton syndrome
      * Meier Blumberg Imahorn syndrome
      * Meier Rotschild syndrome
      * Meige syndrome
      * Meigel disease
      * Meinecke Pepper syndrome
      * Meinecke syndrome
      * Melanoma astrocytoma syndrome
      * Melanoma of the choroid
      * Melanoma of the ciliary body
      * Melanoma of the iris
      * Melanoma, familial
      * MELAS
      * Meleda Disease
      * Melhem Fahl syndrome
      * Meliodosis
      * Melkersson-Rosenthal syndrome
      * Melnick-Needles syndrome
      * Melorheostosis
      * Membranoproliferative glomerulonephritis (type 2)
      * Membranous nephropathy, idiopathic
      * Mendelian susceptibility to atypical mycobacteria
      * Mengel Konigsmark syndrome
      * Meningeal angiomatosis cleft hypoplastic left heart
      * Meningioma, familial
      * Meningocele
      * Meningococcal infection
      * Meningococcemia
      * Meningoencephalocele
      * Meningoencephalocele-arthrogryposis-hypoplastic thumb
      * Meningomyelocele
      * Menkes syndrome
      * Mental deficiency-epilepsy-endocrine disorders
      * Mental mixed retardation deafnes clubbed digits
      * Mental retardation anophthalmia craniosynostosis
      * Mental retardation arachnodactyly hypotonia telangiectasia
      * Mental retardation athetosis microphthalmia
      * Mental retardation blepharophimosis obesity web neck
      * Mental retardation Buenos Aires type
      * Mental retardation cataracts calcified pinnae myopathy
      * Mental retardation coloboma slimness
      * Mental retardation contractural arachnodactyly
      * Mental retardation dysmorphism hypogonadism diabetes
      * Mental retardation epilepsy
      * Mental retardation epilepsy bulbous nose
      * Mental retardation gynecomastia obesity X-linked
      * Mental retardation hip luxation G6PD variant
      * Mental retardation hypocupremia hypobetalipoproteinemia
      * Mental retardation hypotonia skin hyperpigmentation
      * Mental retardation macrocephaly coarse facies hypotonia
      * Mental retardation microcephaly phalangeal facial
      * Mental retardation microcephaly unusual facies
      * Mental retardation Mietens Weber type
      * Mental retardation multiple nevi
      * Mental retardation myopathy short stature endocrine defect
      * Mental retardation nasal hypoplasia obesity genital hypoplasia
      * Mental retardation nasal papillomata
      * Mental retardation osteosclerosis
      * Mental retardation progressive spasticity
      * Mental retardation psychosis macroorchidism
      * Mental retardation short broad thumbs
      * Mental retardation short stature absent phalanges
      * Mental retardation short stature Bombay phenotype
      * Mental retardation short stature cleft palate unusual facies
      * Mental retardation short stature deafness genital
      * Mental retardation short stature hand contractures genital anomalies
      * Mental retardation short stature heart and skeletal anomalies
      * Mental retardation short stature hypertelorism
      * Mental retardation short stature microcephaly eye
      * Mental retardation short stature ocular and articular anomalies
      * Mental retardation short stature scoliosis
      * Mental retardation short stature unusual facies
      * Mental retardation skeletal dysplasia abducens palsy
      * Mental retardation Smith Fineman Myers type
      * Mental retardation spasticity ectrodactyly
      * Mental retardation syndrome, Belgian type
      * Mental retardation unusual facies
      * Mental retardation unusual facies talipes hand anomalies
      * Mental retardation Wolff type
      * Mental retardation X-linked borderline Maoa metabolism anomaly
      * Mental retardation X-linked Brunner type
      * Mental retardation X-linked dysmorphism
      * Mental retardation X-linked dystonia dysarthria
      * Mental retardation X-linked short stature obesity
      * Mental retardation X-linked syndromic 7
      * Mental retardation X-linked, South African type
      * Mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity
      * Mental retardation, keratoconus, febrile seizures, and sinoatrial block
      * Mental retardation, macrocephaly, short stature and craniofacial dysmorphism
      * Mental retardation, X-linked 14
      * Mental retardation, X-linked, nonspecific
      * Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance
      * Mental retardation-hypotonic facies syndrome, x-linked, 1
      * Mental retardation-polydactyly-uncombable hair
      * Meralgia paresthetica
      * Mercury poisoning
      * Meretoja syndrome
      * Merkel cell cancer
      * Merlob Grunebaum Reisner syndrome
      * Merlob syndrome
      * Mesangial proliferative glomerulonephritis
      * Mesangial sclerosis, diffuse
      * Mesenteric artery ischemia
      * Mesenteric Panniculitis
      * Mesodermal defects lower type
      * Mesomelia
      * Mesomelia-synostoses syndrome
      * Mesomelic dwarfism cleft palate camptodactyly
      * Mesomelic dwarfism Reinhardt Pfeiffer type
      * Mesomelic dysplasia skin dimples
      * Mesomelic syndrome Pfeiffer type
      * Mesothelioma, adult malignant
      * Metabolic disorder
      * Metacarpals 4 and 5 fusion
      * Metachondromatosis
      * Metachromatic leukodystrophy
      * Metagonimiasis
      * Metaphyseal acroscyphodysplasia
      * Metaphyseal anadysplasia
      * Metaphyseal chondrodysplasia Schmid type
      * Metaphyseal chondrodysplasia Spahr type
      * Metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands
      * Metaphyseal chondrodysplasia, others
      * Metaphyseal dysostosis mental retardation conductive deafness
      * Metaphyseal dysplasia maxillary hypoplasia brachydactyly
      * Metaphyseal dysplasia Pyle type
      * Metaphyseal undermodeling, spondylar dysplasia, and overgrowth
      * Metastatic insulinoma
      * Metastatic squamous neck cancer with occult primary
      * Metatarsus adductus
      * Metatrophic dysplasia
      * Metatropic dwarfism
      * Methimazole antenatal infection
      * Methionine adenosyl transferase deficiency
      * Methyl mercury antenatal infection
      * Methylcobalamin deficiency cbl G type
      * Methylcobalamin deficiency, cbl E complementation type
      * Methylenetetrahydrofolate reductase deficiency
      * Methylmalonic acidemia
      * Methylmalonic acidemia with homocystinuria
      * Methylmalonic aciduria cblA type
      * Methylmalonic aciduria cblB type
      * Methylmalonic aciduria microcephaly cataract
      * Methylmalonicacidemia with homocystinuria, cbl D
      * Methylmalonicaciduria with homocystinuria, cbl F
      * Methylmalonyl-Coenzyme A mutase deficiency
      * Mevalonic aciduria
      * Meyenburg-Altherr-Uehlinger syndrome
      * MHC class 1 or class 2 deficiency
      * Michelin tire baby syndrome
      * Michels Caskey syndrome
      * Mickleson syndrome
      * Micrencephaly corpus callosum agenesis
      * Micrencephaly olivopontocerebellar hypoplasia
      * Micro syndrome
      * Microbrachycephaly ptosis cleft lip
      * Microcephalic osteodysplastic primordial dwarfism, type 1
      * Microcephalic osteodysplastic primordial dwarfism, type 2
      * Microcephalic osteodysplastic primordial dwarfism, type 3
      * Microcephalic primordial dwarfism
      * Microcephalic primordial dwarfism Toriello type
      * Microcephaly
      * Microcephaly albinism digital anomalies syndrome
      * Microcephaly autosomal dominant
      * Microcephaly brachydactyly kyphoscoliosis
      * Microcephaly brain defect spasticity hypernatremia
      * Microcephaly cardiac defect lung malsegmentation
      * Microcephaly cardiomyopathy
      * Microcephaly cervical spine fusion anomalies
      * Microcephaly chorioretinopathy recessive form
      * Microcephaly deafness syndrome
      * Microcephaly developmental delay pancytopenia
      * Microcephaly glomerulonephritis Marfanoid habitus
      * Microcephaly hypergonadotropic hypogonadism short stature
      * Microcephaly immunodeficiency lymphoreticuloma
      * Microcephaly mental retardation retinopathy
      * Microcephaly mental retardation spasticity epilepsy
      * Microcephaly mesobrachyphalangy tracheoesophageal fistula syndrome
      * Microcephaly microcornea syndrome Seemanova type
      * Microcephaly micropenis convulsions
      * Microcephaly microphthalmos blindness
      * Microcephaly nonsyndromal
      * Microcephaly pontocerebellar hypoplasia dyskinesia
      * Microcephaly seizures mental retardation heart disorders
      * Microcephaly sparse hair mental retardation seizures
      * Microcephaly with chorioretinopathy, autosomal dominant form
      * Microcephaly with normal intelligence, immunodeficiency
      * Microcephaly with spastic quadriplegia
      * Microcephaly, corpus callosum dysgenesis and cleft lip-palate
      * Microcephaly, hiatal hernia and nephrotic syndrome
      * Microcephaly, holoprosencephaly, and intrauterine growth retardation
      * Microcephaly, primary autosomal recessive
      * Microcoria, congenital
      * Microcornea corectopia macular hypoplasia
      * Microcornea, glaucoma, and absent frontal sinuses
      * Microdontia hypodontia short stature
      * Microencephaly
      * Microgastria limb reduction defect
      * Microhydranencephaly
      * Micromelic dwarfism Fryns type
      * Micromelic dysplasia, congenital, with dislocation of radius
      * Microphthalmia
      * Microphthalmia and mental deficiency
      * Microphthalmia associated with colobomatous cyst
      * Microphthalmia camptodactyly mental retardation
      * Microphthalmia cataract
      * Microphthalmia diaphragmatic hernia Fallot
      * Microphthalmia mental deficiency
      * Microphthalmia microtia fetal akinesia
      * Microphthalmia, isolated, with corectopia
      * Microphthalmia, Lentz type
      * Microphthalmia, syndromic 1
      * Microphthalmia, syndromic 2
      * Microphthalmia, syndromic 7
      * Microscopic polyangiitis
      * Microsomia hemifacial radial defects
      * Microspherophakia with hernia
      * Microsporidiosis
      * Microtia, meatal atresia and conductive deafness
      * Microvillus inclusion disease
      * Midline cleft of lower lip
      * Midline defects autosomal type
      * Midline defects recessive type
      * Midline developmental field defects
      * Midline field defects
      * Midline lethal granuloma
      * Midphalangeal hair
      * Mikulicz' Disease
      * Mikulicz syndrome
      * Miles-Carpenter x-linked mental retardation syndrome
      * Miller Fisher syndrome
      * Miller-Dieker syndrome
      * Milner Khallouf Gibson syndrome
      * Minicore myopathy, antenatal onset, with arthrogryposis
      * Mirizzi syndrome
      * Mirror polydactyly segmentation and limbs defects
      * Mitochondrial complex I deficiency
      * Mitochondrial diseases, clinically undefinite
      * Mitochondrial encephalomyopathy aminoacidopathy
      * Mitochondrial myopathy with lactic acidosis
      * Mitochondrial myopathy-encephalopathy-lactic acidosis
      * Mitochondrial neurogastrointestinal encephalopathy syndrome
      * Mitochondrial trifunctional protein deficiency
      * Mitral atresia
      * Mitral regurgitation deafness skeletal anomalies
      * Mitral valve prolapse, familial, autosomal dominant
      * Mitral valve prolapse, familial, X-linked
      * Miura syndrome
      * Mixed connective tissue disease
      * Mixed sclerosing bone dystrophy
      * Miyoshi myopathy
      * MMEP syndrome
      * MN1
      * Mobius syndrome
      * MODY syndrome
      * Moebius axonal neuropathy hypogonadism
      * Moebius syndrome 1
      * Mohr syndrome
      * Mohr-Tranebjaerg syndrome
      * Mollica Pavone Antener syndrome
      * Moloney syndrome
      * Molybdenum cofactor deficiency
      * MOMO syndrome
      * Mondini Dysplasia
      * Mondor's disease
      * Monilethrix
      * Monoamine oxidase A deficiency
      * Monoclonal gammopathy of undetermined significance
      * Monodactyly tetramelic
      * Mononen Karnes Senac syndrome
      * Mononeuritis multiplex
      * Monosomy 8q12 21
      * Monosomy 8q21 q22
      * Monosomy X
      * Montefiore syndrome
      * Moore Smith Weaver syndrome
      * Morel's ear
      * Moreno Zachai Kaufman syndrome
      * Morgagni-Stewart-Morel syndrome
      * Morgellons
      * Morillo-Cucci Passarge syndrome
      * MORM syndrome
      * Morquio syndrome
      * Morquio syndrome, type B
      * Morse Rawnsley Sargent syndrome
      * Morvan's fibrillary chorea
      * Mosaic variegated aneuploidy syndrome
      * Motor neuron disease
      * Motor neuro-ophthalmic disorders
      * Motor neuropathy
      * Motor neuropathy peripheral with dysautonomia
      * Motor sensory neuropathy type 1 aplasia cutis congenita
      * Mounier-Kuhn syndrome
      * Mousa Al din Al Nassar syndrome
      * Mowat-Wilson syndrome
      * Moyamoya disease 1
      * Moyamoya disease 2
      * Moyamoya disease 3
      * MPS 3 A
      * MPS 3 B
      * MPS 3 C
      * MPS 3 D
      * MSBD syndrome
      * Mucha-Habermann disease
      * Muckle-Wells syndrome
      * Mucolipidosis type 1
      * Mucolipidosis type 3 A
      * Mucolipidosis type 4
      * Mucopolysaccharidosis
      * Mucopolysaccharidosis type 2 Hunter syndrome- mild form
      * Mucopolysaccharidosis type 2 Hunter syndrome- severe form
      * Mucopolysaccharidosis type 3
      * Mucopolysaccharidosis type 5
      * Mucopolysaccharidosis type 6
      * Mucopolysaccharidosis type 7 Sly syndrome
      * Mucopolysaccharidosis type I Hurler syndrome
      * Mucopolysaccharidosis type I Hurler/Scheie syndrome
      * Mucopolysaccharidosis type I Scheie syndrome
      * Mucopolysaccharidosis type IV-B
      * Muenke Syndrome
      * Mulibrey Nanism syndrome
      * Muller Barth Menger syndrome
      * Mullerian agenesis
      * Mullerian aplasia
      * Mullerian derivatives, persistent
      * Mullerian duct abnormalities galactosemia
      * Mulliez Roux Loterman syndrome
      * Multi-centric Castleman’s Disease
      * Multicentric osteolysis nephropathy
      * Multicentric reticulohistiocytosis
      * Multicore disease
      * Multicystic renal dysplasia, bilateral
      * Multifocal choroiditis
      * Multifocal fibrosclerosis
      * Multifocal heterotopia
      * Multifocal motor neuropathy with conduction block
      * Multifocal ventricular premature beats
      * Multinodular goiter cystic kidney polydactyly
      * Multiple carboxylase deficiency, biotin responsive
      * Multiple carboxylase deficiency, late onset
      * Multiple carboxylase deficiency, propionic acidemia
      * Multiple congenital anomalies mental retardation, growth failure and cleft lip palate
      * Multiple congenital contractures
      * Multiple endocrine neoplasia type 1
      * Multiple endocrine neoplasia type 2A
      * Multiple endocrine neoplasia, type 2
      * Multiple endocrine neoplasia, type 2B
      * Multiple fibrofolliculoma familial
      * Multiple hereditary exostoses
      * Multiple joint dislocations metaphyseal dysplasia
      * Multiple myeloma
      * Multiple pterygium syndrome
      * Multiple pterygium syndrome lethal type
      * Multiple sclerosis ichthyosis factor 8 deficiency
      * Multiple sulfatase deficiency
      * Multiple synostoses syndrome 1
      * Multiple synostoses syndrome 2
      * Multiple system atrophy
      * Multiple system atrophy (MSA) with orthostatic hypotension
      * Multiple vertebral anomalies unusual facies
      * Mumps
      * Munchausen by proxy syndrome
      * MURCS association
      * Muscle eye brain disease
      * Muscular atrophy ataxia retinitis pigmentosa diabetes mellitus
      * Muscular dystrophy
      * Muscular Dystrophy - Late Onset
      * Muscular dystrophy congenital, merosin negative
      * Muscular dystrophy limb girdle type 2A, Erb type
      * Muscular dystrophy white matter spongiosis
      * Muscular dystrophy, congenital, infantile with cataract and hypogonadism
      * Muscular dystrophy, congenital, merosin-positive
      * Muscular dystrophy, Duchenne and Becker type
      * Muscular dystrophy, limb-girdle, type 1A
      * Muscular fibrosis multifocal obstructed vessels
      * Muscular phosphorylase kinase deficiency
      * Myalgia eosinophilia associated with tryptophan
      * Myalgic encephalomyelitis
      * Myasthenia gravis
      * Myasthenia gravis congenital
      * Myasthenia, familial
      * Myasthenia, familial limb-girdle
      * Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency
      * Myasthenic syndrome, congenital, slow-channel
      * Mycetoma
      * Mycobacterium avium complex infection
      * Mycobacterium Fortuitum
      * Mycobacterium tuberculosis, susceptibility to infection by
      * Mycoplasmal pneumonia
      * Mycosis fungoides, familial
      * Myelinopathies
      * Myelitis
      * Myelocerebellar disorder
      * Myelocytic leukemia-like syndrome, familial, chronic
      * Myelodysplasia
      * Myelodysplastic myeloproliferative disease
      * Myelodysplastic syndromes
      * Myelofibrosis
      * Myelofibrosis-osteosclerosis
      * Myeloid splenomegaly
      * Myeloperoxidase deficiency
      * Myhre Ruvalcaba Graham syndrome
      * Myhre Ruvalcaba Kelley syndrome
      * Myhre School syndrome
      * Myhre syndrome
      * Myoadenylate deaminase deficiency
      * Myocarditis
      * Myoclonic dystonia
      * Myoclonic progressive familial epilepsy
      * Myoclonus ataxia
      * Myoclonus cerebellar ataxia deafness
      * Myoclonus epilepsy
      * Myoclonus epilepsy partial seizure
      * Myoclonus hereditary progressive distal muscular atrophy
      * Myoclonus progressive epilepsy of Unverricht and Lundborg
      * Myoclonus with epilepsy with ragged red fibers
      * Myofibrillar lysis
      * Myofibroblastic tumors
      * Myoglobinuria
      * Myoglobinuria dominant form
      * Myoglobinuria recurrent
      * Myokymia with neonatal epilepsy
      * Myopathic carnitine deficiency
      * Myopathy and diabetes mellitus
      * Myopathy cataract hypogonadism
      * Myopathy congenital multicore with external ophthalmoplegia
      * Myopathy growth and mental retardation hypospadias
      * Myopathy Hutterite type
      * Myopathy mitochondrial cataract
      * Myopathy ophthalmoplegia hypoacousia areflexia
      * Myopathy with lactic acidosis and sideroblastic anemia
      * Myopathy with lysis of myofibrils
      * Myopathy, congenital nonprogressive with Moebius and Robin sequences
      * Myopathy, desmin storage
      * Myopathy, limb-girdle, with bone fragility
      * Myopathy, McArdle type
      * Myopathy, myotubular
      * Myopathy, tubular aggregate
      * Myopathy, X-linked, with excessive autophagy
      * Myopia 6
      * Myopia, infantile severe
      * Myopia, severe
      * Myositis ossificans
      * Myositis ossificans post-traumatic
      * Myositis ossificans progressiva
      * Myositis, inclusion body
      * Myostatin-related muscle hypertrophy
      * Myotonia atrophica
      * Myotonia mental retardation skeletal anomalies
      * Myxedema
      * Myxoid liposarcoma
      * Myxoma-spotty pigmentation-endocrine overactivity
      * Myxomatous peritonitis
      * Myxozoa

    6. #6
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      N


      * N acetyltransferase deficiency
      * N syndrome
      * Nablus mask-like facial syndrome
      * N-acetyl glucosamine 6-sulfate sulfatase deficiency
      * N-acetyl glutamate synthetase deficiency
      * N-acetyl-alpha-D-galactosaminidase
      * NADH cytochrome B5 reductase deficiency
      * Naegeli syndrome
      * Naguib-Richieri-Costa syndrome
      * Nail dysplasia, isolated congenital
      * Nail Patella syndrome
      * Nakajo syndrome
      * Nakamura Osame syndrome
      * Nance-Horan syndrome
      * Nanism due to growth hormone combined deficiency
      * Narcolepsy
      * Narrow oral fissure short stature cone shaped epiphyses
      * Nasal polyposis, familial
      * Nasodigitoacoustic syndrome
      * Nasopalpebral lipoma coloboma syndrome
      * Nasopharyngeal carcinoma
      * Nasopharyngeal teratoma with Dandy Walker diaphragmatic hernia
      * Natal teeth, intestinal pseudoobstruction and patent ductus
      * Nathalie syndrome
      * Native American myopathy
      * Navajo neurohepatopathy
      * Navajo poikiloderma
      * Naxos disease
      * Necrotizing enterocolitis
      * Necrotizing fasciitis
      * Negative rheumatoid factor polyarthritis
      * Neisseria meningitidis
      * Nelson syndrome
      * Nemaline myopathy 1
      * Nemaline Myopathy 2
      * Nemaline myopathy 3
      * Nemaline myopathy 4
      * Nemaline myopathy 5
      * Nemaline myopathy 6
      * NEMO mutation with immunodeficiency
      * Neonatal hemochromatosis
      * Neonatal herpes
      * Neonatal ovarian cyst
      * Neonatal Systemic lupus erythematosus
      * Neonatal-onset citrullinemia type 2
      * Nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor
      * Nephrocalcinosis
      * Nephrogenic diabetes insipidus
      * Nephrogenic Fibrosing Dermopathy
      * Nephronophthisis familial adult spastic quadriparesis
      * Nephropathic cystinosis
      * Nephropathy deafness hyperparathyroidism
      * Nephropathy familial with hyperuricemia
      * Nephrosclerosis
      * Nephrosis deafness urinary tract digital malformation
      * Nephrotic syndrome ocular anomalies
      * Nephrotic syndrome, idiopathic, steroid-resistant
      * Nerve sheath neoplasm
      * Nesidioblastosis of pancreas
      * Netherton syndrome
      * Neu Laxova syndrome
      * Neuhauser Daly Magnelli syndrome
      * Neuhauser Eichner Opitz syndrome
      * Neural crest tumor
      * Neural tube defect, folate-sensitive
      * Neural tube defects X-linked
      * Neuraminidase deficiency with beta-galactosidase deficiency
      * Neuritis with brachial predilection
      * Neuroaxonal dystrophy renal tubular acidosis
      * Neuroaxonal dystrophy, infantile
      * Neuroblastoma
      * Neurocutaneous melanosis
      * Neuroectodermal endocrine syndrome
      * Neuroectodermal tumors primitive
      * Neuroendocrine carcinoma of the cervix
      * Neuroepithelioma
      * Neurofaciodigitorenal syndrome
      * Neurofibroma
      * Neurofibromatosis type 1
      * Neurofibromatosis type 2
      * Neurofibromatosis type 3
      * Neurofibromatosis type 5
      * Neurofibromatosis, familial intestinal
      * Neurofibromatosis, type 4, of Riccardi
      * Neurofibromatosis-Noonan syndrome
      * Neurofibrosarcoma
      * Neurogenic hypertension
      * Neuroleptic malignant syndrome
      * Neuroma biliary tract
      * Neuronal interstitial dysplasia
      * Neuronal intestinal pseudoobstruction
      * Neuronal intranuclear hyaline inclusion disease
      * Neuronal intranuclear inclusion disease
      * Neuropathy ataxia and retinis pigmentosa
      * Neuropathy hereditary sensory and autonomic type 1
      * Neuropathy motor sensory type 2 deafness mental retardation
      * Neuropathy sensory spastic paraplegia
      * Neuropathy, congenital, with arthrogryposis multiplex
      * Neuropathy, distal hereditary motor, Jerash type
      * Neuropathy, hereditary motor and sensory, LOM type
      * Neuropathy, hereditary motor and sensory, Okinawa type
      * Neuropathy, hereditary motor and sensory, Russe type
      * Neurosarcoidosis
      * Neurosyphilis
      * Neurotoxicity syndromes
      * Neutropenia intermittent
      * Neutropenia monocytopenia deafness
      * Neutropenia, severe chronic
      * Neutrophilic dermatosis, acute febrile
      * Nevi flammei, familial multiple
      * Nevo syndrome
      * Nevoid basal cell carcinoma syndrome
      * Nevus of ota retinitis pigmentosa
      * Nevus sebaceus of Jadassohn
      * Nguyen syndrome
      * Nicolaides Baraitser syndrome
      * Niemann-Pick Disease
      * Niemann-Pick disease type D
      * Niemann-Pick disease, type C1
      * Niemann-Pick disease, type C2
      * Nievergelt syndrome
      * Night blindness skeletal anomalies unusual facies
      * Night blindness, congenital stationary
      * Nijmegen Breakage Syndrome
      * Nipah virus encephalitis
      * Nivelon Nivelon Mabille syndrome
      * Noble Bass Sherman syndrome
      * Nocardiosis
      * Nodular melanoma
      * Noma
      * Non functioning pancreatic endocrine tumor
      * Non-alcoholic steatohepatitis (NASH)
      * Nondystrophic myotonia
      * Non-dystrophic Myotonic Disorders
      * Non-Hodgkin's lymphoma, during pregnancy
      * Noninsulin-dependent diabetes mellitus with deafness
      * Nonkeratan-sulfate-excreting Morquio syndrome
      * Non-lissencephalic cortical dysplasia
      * Nonmedullary thyroid carcinoma, with or without cell oxyphilia
      * Nonne-Milroy disease
      * Nonseminomatous germ cell tumor
      * Non-small cell lung cancer
      * Nonsyndromic hereditary hearing impairment
      * Noonan like syndrome
      * Noonan syndrome
      * Noonan syndrome 3
      * Norman Roberts lissencephaly syndrome
      * Normokalemic periodic paralysis
      * Norrie disease
      * Norum disease
      * Nose polyposis, familial
      * Notalgia paresthetica
      * Nova syndrome
      * Novak syndrome
      * Nuchal bleb, familial
      * Nystagmus 1, congenital, X- linked
      * Nystagmus 2, congenital, autosomal dominant
      * Nystagmus 3, congenital, autosomal dominant
      * Nystagmus 4, congenital, autosomal dominant
      * Nystagmus, congenital motor, autosomal recessive
      * Nystagmus, hereditary vertical
      * Nystagmus, myoclonic



      O


      * O Donnell Pappas syndrome
      * Obstructive asymmetric septal hypertrophy
      * Occipital horn syndrome
      * Occult spinal dysraphism
      * Ochronosis
      * Ochronosis, hereditary
      * Ocular Albinism type 1
      * Ocular cicatricial pemphigoid
      * Ocular coloboma-imperforate anus
      * Ocular convergence spasm
      * Ocular melanoma
      * Ocular motility disorders
      * Ocular Muscular Dystrophy
      * Ocular toxoplasmosis
      * Oculo cerebral dysplasia
      * Oculo cerebro acral syndrome
      * Oculo cerebro osseous syndrome
      * Oculo digital syndrome
      * Oculo skeletal renal syndrome
      * Oculo tricho anal syndrome
      * Oculo tricho dysplasia
      * Oculoauriculofrontonasal syndrome
      * Oculocerebral hypopigmentation syndrome Cross type
      * Oculocerebral hypopigmentation syndrome type Preus
      * Oculocerebral syndrome with hypopigmentation
      * Oculocerebrocutaneous syndrome
      * Oculocerebrorenal syndrome
      * Oculocutaneous albinism type 1
      * Oculocutaneous albinism type 1B
      * Oculocutaneous albinism type 2
      * Oculocutaneous albinism type 3
      * Oculocutaneous tyrosinemia
      * Oculodental syndrome Rutherfurd syndrome
      * Oculodentodigital dysplasia dominant
      * Oculodentodigital syndrome
      * Oculo-dento-digital syndrome
      * Oculodentoosseous dysplasia dominant
      * Oculodentoosseous dysplasia recessive
      * Oculodigitoesophagoduodenal syndrome
      * Oculofaciocardiodental syndrome
      * Oculo-gastrointestinal muscular dystrophy
      * Oculomaxillofacial dysostosis
      * Oculomelic amyoplasia
      * Oculopalatoskeletal syndrome
      * Oculopharyngeal muscular dystrophy
      * Oculorenocerebellar syndrome
      * Odonto onycho dysplasia with alopecia
      * Odontoma
      * Odontoma dysphagia syndrome
      * Odontomicronychial dysplasia
      * Odontoonychodermal dysplasia
      * OFD syndrome type 8
      * OFD syndrome type Figuera
      * Ogilvie's syndrome
      * Oguchi disease
      * Ohtahara syndrome
      * Okamuto Satomura syndrome
      * Oligodactyly tetramelic postaxial
      * Oligodendroglioma
      * Oligomeganephronic renal hypoplasia
      * Oligomeganephrony
      * Oligophernia
      * Oliver McFarlane syndrome
      * Oliver syndrome
      * Olivopontocerebellar atrophies
      * Olivopontocerebellar atrophy deafness
      * Olivopontocerebellar atrophy type 3
      * Olivopontocerebellar hypoplasia, fetal-onset
      * Ollier disease
      * Olmsted syndrome
      * Omenn syndrome
      * Omodysplasia type 1
      * Omphalocele cleft palate syndrome lethal
      * Omphalocele exstrophy imperforate anus
      * Omphalomesenteric cyst
      * Omsk hemorrhagic fever
      * Onat syndrome
      * Onchocerciasis
      * Oncocytoma, renal
      * Oncogenic osteomalacia
      * Onychotrichodysplasia and neutropenia
      * Onychotrichodysplasia, chronic neutropenia and mental retardation syndrome
      * Ophthalmoplegic Muscular dystrophy
      * Opisthorchiasis
      * Opitz Reynolds Fitzgerald syndrome
      * Opitz syndrome
      * Oppositional defiant disorder
      * Opsismodysplasia
      * Opthalmic icthyosis
      * Opthalmo acromelic syndrome
      * Opthalmomandibulomelic dysplasia
      * Opthalmoplegia ataxia hypoacusis
      * Opthalmoplegia mental retardation lingua scrotalis
      * Opthalmoplegia myalgia tubular aggregates
      * Opthalmoplegia progressive external scoliosis
      * Optic atrophy 1
      * Optic atrophy 1 and deafness
      * Optic atrophy 2
      * Optic atrophy 5
      * Optic atrophy 6
      * Optic atrophy and cataract, autosomal dominant
      * Optic atrophy opthalmoplegia ptosis deafness myopia
      * Optic atrophy polyneuropathy deafness
      * Optic nerve disorder
      * Optic nerve hypoplasia, familial bilateral
      * Optic neuropathy, anterior ischemic
      * Optic pathway glioma
      * Opticoacoustic nerve atrophy dementia
      * Oral cancer
      * Oral facial digital syndrome
      * Oral facial digital syndrome, type 3
      * Oral facial dyskinesia
      * Oral leukoplakia
      * Oral lichen planus
      * Oral lichenoid lesions
      * Oral pharyngeal disorders
      * Oral squamous cell carcinoma
      * Oral submucous fibrosis
      * Oral-facial cleft
      * Orbital lymphangioma
      * Orbital lymphoma
      * Organic acidemia
      * Organic brain syndrome
      * Organic mood syndrome
      * Organic personality syndrome
      * Ornithine aminotransferase deficiency
      * Ornithine Transcarbamylase Deficiency
      * Ornithinemia
      * Oro acral syndrome
      * Orofaciodigital syndrome 4
      * Orofaciodigital syndrome Gabrielli type
      * Orofaciodigital syndrome Thurston type
      * Orofaciodigital syndrome type 2
      * Orofaciodigital syndrome type1
      * Orofaciodigital syndrome, Shashi type
      * Oropharyngeal cancer, adult
      * Orotic aciduria hereditary
      * Orotic aciduria purines-pyrimidines
      * Oroticaciduria 1
      * Orotidylic decarboxylase deficiency
      * Orstavik Lindemann Solberg syndrome
      * Orthostatic intolerance
      * Oslam syndrome
      * Osler-rendu-weber syndrome 2
      * Osler-rendu-weber syndrome 3
      * OSMED Syndrome
      * Ossicular Malformations, familial
      * Ossification of the posterior longitudinal ligament of the spine
      * Osteoarthropathy of fingers familial
      * Osteochondritis deformans juvenile
      * Osteochondritis dissecans
      * Osteochondrodysplasia thrombocytopenia hydrocephalus
      * Osteochondroma
      * Osteochondromatosis
      * Osteodysplasia familial Anderson type
      * Osteodysplastic dwarfism Corsello type
      * Osteodysplasty, precocious, of Danks, Mayne, and Kozlowski
      * Osteoectasia familial
      * Osteogenesis imperfecta
      * Osteogenesis imperfecta congenita, microcephaly, and cataracts
      * Osteogenesis imperfecta, Levin type
      * Osteogenesis imperfecta, type 1
      * Osteogenesis imperfecta, type 1A
      * Osteogenesis imperfecta, type 2A
      * Osteogenesis imperfecta, type 2B
      * Osteogenesis imperfecta, type 3
      * Osteogenesis imperfecta, type 4
      * Osteogenesis imperfecta, type 5
      * Osteogenesis imperfecta, type 6
      * Osteogenesis imperfecta, type 7
      * Osteogenesis imperfecta, type VIII
      * Osteogenic sarcoma
      * Osteoglophonic dwarfism
      * Osteolysis hereditary multicentric
      * Osteolysis syndrome recessive
      * Osteomalacia
      * Osteomyelitis
      * Osteonecrosis
      * Osteopathia striata cranial sclerosis
      * Osteopathia striata with pigmentary dermopathy including white forelock
      * Osteopetrosis
      * Osteopetrosis and infantile neuroaxonal dystrophy
      * Osteopetrosis autosomal dominant type 1
      * Osteopetrosis lethal
      * Osteopetrosis with renal tubular acidosis
      * Osteopetrosis, mild autosomal recessive form
      * Osteopetrosis, renal tubular acidosis and basal ganglia calcification
      * Osteopoikilosis
      * Osteopoikilosis and dacryocystitis
      * Osteoporosis macrocephaly mental retardation blindness
      * Osteoporosis oculocutaneous hypopigmentation syndrome
      * Osteoporosis-pseudoglioma syndrome
      * Osteosarcoma limb anomalies erythroid macrocytosis
      * Osteosclerose type Stanescu
      * Osteosclerosis abnormalities of nervous system and meninges
      * Osteosclerosis autosomal dominant Worth type
      * Osteosclerosis with ichthyosis and premature ovarian failure
      * Ota Kawamura Ito syndrome
      * Otodental dysplasia
      * Otofaciocervical syndrome
      * Otoonychoperoneal syndrome
      * Oto-Palatal-digital syndrome
      * Oto-Palato-digital syndrome type 1
      * Oto-palato-digital syndrome, type 2
      * Otosclerosis
      * Otosclerosis, familial
      * Ouvrier Billson syndrome
      * Ovarian cancer
      * Ovarian carcinosarcoma
      * Ovarian dwarfism
      * Ovarian dwarfism as part of Turner Syndrome
      * Ovarian epithelial cancer
      * Ovarian germ cell tumor
      * Ovarian insufficiency due to FSH resistance
      * Ovarian insufficiency, familial
      * Ovarian low malignant potential tumor
      * Ovarian remnant syndrome
      * Overfolded helix
      * Overgrowth radial ray defect arthrogryposis
      * Overgrowth syndrome type Fryer
      * Overhydrated hereditary stomatocytosis
      * Oxalosis



      P



      * Pachydermoperiostosis
      * Pachygyria
      * Pachygyria with mental retardation and seizures
      * Pachygyria, frontotemporal
      * Pachyonychia congenita Jackson Lawler type
      * Pachyonychia congenita recessive
      * Pacman dysplasia
      * Paget disease extramammary
      * Pagets disease
      * Paget's disease of the breast
      * Paget's disease, type 1
      * Pagon Stephan syndrome
      * Paine syndrome
      * Palant cleft palate syndrome
      * Palindromic rheumatism
      * Pallidopyramidal syndrome
      * Pallister Killian syndrome
      * Pallister W syndrome
      * Pallister-Hall syndrome
      * Palmer Pagon syndrome
      * Palmoplantar Keratoderma
      * Palmoplantar keratoderma, epidermolytic
      * Pancreas agenesis, dorsal
      * Pancreatic adenoma
      * Pancreatic beta cell agenesis with neonatal diabetes mellitus
      * Pancreatic cancer, adult
      * Pancreatic carcinoma, familial
      * Pancreatic islet cell tumors
      * Pancreatic lipomatosis duodenal stenosis
      * Pancreatoblastoma
      * PANDAS
      * Panhypopituitarism
      * Panostotic fibrous dysplasia
      * Panuveitis
      * Papillary cystadenocarcinoma
      * Papillary renal cell carcinoma
      * Papilledema
      * Papillitis
      * Papilloma of choroid plexus
      * Papillomatosis, florid, of nipple
      * Papillorenal syndrome
      * Papular mucinosis
      * Papular urticaria
      * Paracoccidioidomycosis
      * Paraganglioma
      * Paragonimiasis
      * Parainfluenza virus type 3
      * Paramyotonia congenita
      * Paranasal sinus cancer, adult
      * Paraneoplastic cerebellar degeneration
      * Paraneoplastic Neurologic Disorders
      * Paraomphalocele
      * Paraplegia
      * Parapsoriasis
      * Paraquat lung
      * Parastremmatic dwarfism
      * Parathyroid cancer, adult
      * PARC syndrome
      * Parenchymatous cortical degeneration of cerebellum
      * Paris-Trousseau thrombocytopenia
      * Parkes Weber syndrome
      * Parkinson disease 3
      * Parkinson disease 9
      * Parkinson disease, juvenile, autosomal recessive
      * Parkinsonism, early onset with mental retardation
      * Paroxysmal cold hemoglobinuria
      * Paroxysmal kinesigenic choreoathetosis
      * Paroxysmal nocturnal hemoglobinuria
      * Paroxysmal nonkinesigenic dyskinesia
      * Paroxysmal ventricular fibrillation
      * Pars planitis
      * Parsonage Turner syndrome
      * Partial agenesis of corpus callosum
      * Partial atrioventricular canal
      * Partial deletion of Y
      * Partial lissencephaly
      * Partington Anderson syndrome
      * Partington X-linked mental retardation syndrome
      * Parvovirus antenatal infection
      * Pascual Castroviejo syndrome
      * Pashayan syndrome
      * Passos-Bueno syndrome
      * Pasteurella multocida
      * Patau syndrome
      * Patel Bixler syndrome
      * Patella aplasia, coxa vara, tarsal synostosis
      * Patella hypoplasia mental retardation
      * Patent ductus arteriosus
      * Patterned dystrophy of retinal pigment epithelium
      * Patterson pseudoleprechaunism syndrome
      * Patterson Stevenson syndrome
      * Pauciarticular chronic arthritis
      * Pavone Fiumara Rizzo syndrome
      * Pearson's marrow-pancreas syndrome
      * Pectus carinatum
      * Pediatric ulcerative colitis
      * Peeling skin syndrome, acral type
      * PEHO syndrome
      * Pelger-Huet anomaly
      * Pelizaeus-Merzbacher disease
      * Pelizaeus-Merzbacher like brain sclerosis
      * Pelizaeus-Merzbacher-like disease, autosomal recessive, 2
      * Pellagra
      * Pellagra like syndrome
      * Pelvic dysplasia arthrogryposis of lower limbs
      * Pelvic lipomatosis
      * Pelviscapular dysplasia
      * Pemphigus
      * Pemphigus and fogo selvagem
      * Pemphigus foliaceus
      * Pemphigus vulgaris
      * Pemphigus vulgaris, familial
      * Pena Shokeir syndrome Type 2
      * Pena Shokeir syndrome, type 1
      * Pendred syndrome
      * Penile cancer, adult
      * Penis agenesis
      * Penoscrotal transposition
      * Pentalogy of Cantrell
      * Pentosuria
      * Penttinen-Aula syndrome
      * PEPCK 1 deficiency
      * PEPCK 2 deficiency
      * Peptidic growth factors deficiency
      * Pericardium absent mental retardation short stature
      * Perilymphatic fistula
      * Perimyositis
      * Periodic fever, aphthous stomatitis, pharyngitis and adenitis
      * Periodic fever, familial, autosomal dominant
      * Peripartum cardiomyopathy
      * Peripheral neuroectodermal tumor
      * Peripheral T-cell lymphoma
      * Peripheral type neurofibromatosis
      * Perisylvian syndrome
      * Periventricular laminar heterotopia
      * Perniola Krajewska Carnevale syndrome
      * Perniosis
      * Peroxisomal ACYL-COA oxidase deficiency
      * Peroxisomal bifunctional enzyme deficiency
      * Peroxisomal defects
      * Peroxisome biogenesis disorders
      * Persistent Mullerian duct syndrome
      * Persistent parvovirus infection
      * Persistent truncus arteriosus
      * Peters anomaly
      * Peters anomaly with cataract
      * Peters congenital glaucoma
      * Petit Fryns syndrome
      * Petty Laxova Wiedemann syndrome
      * Peutz Jeghers syndrome
      * Peyronie disease
      * Pfeiffer Kapferer syndrome
      * Pfeiffer Mayer syndrome
      * Pfeiffer Palm Teller syndrome
      * Pfeiffer Rockelein syndrome
      * Pfeiffer syndrome
      * Pfeiffer Tietze Welte syndrome
      * PHACE association
      * Phacomatosis fourth
      * Phacomatosis pigmentokeratotica
      * Phacomatosis pigmentovascularis
      * Phenobarbital antenatal infection
      * Phenobarbital embryopathy
      * Phenol sulfotransferase deficiency
      * Phenothiazine antenatal infection
      * Phenylalaninemia
      * Phenylketonuria
      * Phenylketonuria type 2
      * Phenylketonuric embryopathy
      * Pheochromocytoma
      * Pheochromocytoma as part of Neurofibromatosis
      * Philadelphia-negative chronic myeloid leukemia
      * Phocomelia contractures absent thumb
      * Phocomelia ectrodactyly deafness sinus arrhythmia
      * Phocomelia syndrome
      * Phocomelia thrombocytopenia encephalocele
      * Phosphate diabetes
      * Phosphoglucomutase deficiency
      * Phosphoglucomutase deficiency type 1
      * Phosphoglucomutase deficiency type 2
      * Phosphoglucomutase deficiency type 3
      * Phosphoglucomutase deficiency type 4
      * Phosphoglycerate kinase 1 deficiency
      * Phosphoglycerate kinase deficiency
      * Phosphomannoisomerase deficiency
      * Phosphoribosylpyrophosphate synthetase deficiency
      * Photosensitive epilepsy
      * Phyllodes tumor of the prostate
      * Phytanic acid oxidase deficiency
      * PIBIDS syndrome
      * Picardi-Lassueur-Little syndrome
      * Pick disease of the brain
      * Piebaldism
      * Piepkorn Karp Hickok syndrome
      * Pierre Marie cerebellar ataxia
      * Pierre Robin sequence faciodigital anomaly
      * Pierre Robin sequence with pectus excavatum and rib and scapular anomalies
      * Pierre Robin syndrome skeletal dysplasia polydactyly
      * Pierre Robin syndrome with fetal chondrodysplasia
      * Pierre Robin's sequence
      * Pierson syndrome
      * Pigmentary retinopathy
      * Pigment-dispersion syndrome
      * Pigmented purpuric eruption
      * Pigmented villonodular synovitis
      * Pili annulati
      * Pili multigemini
      * Pili torti
      * Pili torti developmental delay neurological abnormalities
      * Pili torti onychodysplasia
      * Pillay syndrome
      * Pilo dento ungular dysplasia microcephaly
      * Pilomatrixoma
      * Pilotto syndrome
      * Pineal Teratoma
      * Pinealoma
      * Pineoblastoma, adult
      * Pinheiro Freire-Maia Miranda syndrome
      * Pinta
      * Piriformis syndrome
      * Pitt Rogers Danks syndrome
      * Pitt-Hopkins syndrome
      * Pituitary dwarfism 1
      * Pituitary tumors, adult
      * Pityriasis lichenoides chronica
      * Pityriasis lichenoides et varioliformis acuta
      * Pityriasis rubra pilaris
      * Piussan Lenaerts Mathieu syndrome
      * Placenta disorder
      * Placenta neoplasm
      * Plagiocephaly
      * Plagiocephaly and X-linked mental retardation
      * Plague
      * Plasma cell leukemia
      * Plasma thromboplastin antecedent deficiency
      * Plasmacytoma anaplastic
      * Plasmalogens synthesis deficiency isolated
      * Plasminogen activitor inhibitor type 1 deficiency, congenital
      * Plasminogen deficiency, congenital
      * Platyspondylic lethal chondrodysplasia
      * Platyspondyly amelogenesis imperfecta
      * Pleomorphic malignant fibrous histiocytoma
      * Pleuropulmonary blastoma
      * Plexosarcoma
      * Plum syndrome
      * Plummer-Vinson syndrome
      * Pneumocystic carinii pneumonia
      * Pneumocystosis
      * Pneumonia, eosinophilic
      * Podder-Tolmie syndrome
      * POEMS syndrome
      * Poikiloderma of Kindler
      * Poikiloderma of Rothmund-Thomson
      * Poikilodermatomyositis mental retardation
      * Poikilodermia alopecia retrognathism cleft palate
      * Pointer syndrome
      * Poland syndrome
      * Poliomyelitis
      * Polyarteritis
      * Polyarteritis nodosa
      * Polyarthritis
      * Polyarthritis, systemic
      * Polychondritis
      * Polycystic bone disease
      * Polycystic kidney disease, autosomal recessive
      * Polycystic kidney disease, infantile type
      * Polycystic kidney disease, type 1
      * Polycystic kidney disease, type 2
      * Polycystic kidneys, severe infantile with tuberous sclerosis
      * Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
      * Polycystic liver disease
      * Polycystic ovarian disease, familial
      * Polycystic ovaries urethral sphincter dysfunction
      * Polycythemia vera
      * Polydactyly
      * Polydactyly alopecia seborrheic dermatitis
      * Polydactyly cleft lip palate psychomotor retardation
      * Polydactyly myopia syndrome
      * Polydactyly postaxial
      * Polydactyly postaxial dental and vertebral
      * Polydactyly postaxial with median cleft of upper lip
      * Polydactyly preaxial type 1
      * Polydactyly syndrome middle ray duplication
      * Polydactyly visceral anomalies cleft lip palate
      * Polydactyly, preaxial 4
      * Polyembryoma
      * Polyglucosan body disease, adult
      * Polymicrogyria turricephaly hypogenitalism
      * Polymorphic catecholergic ventricular tachycardia
      * Polymorphic macular degeneration
      * Polymorphic reticulosis
      * Polymorphous low-grade adenocarcinoma
      * Polymyositis
      * Polyneuritis
      * Polyneuropathy hand defect
      * Polyneuropathy mental retardation acromicria prema
      * Polyomavirus allograft nephropathy
      * Polyomavirus Infections
      * Polyostotic osteolytic dysplasia, hereditary expansile
      * Polyposis skin pigmentation alopecia fingernail changes
      * Polysyndactyly cardiac malformation
      * Polysyndactyly microcephaly ptosis
      * Polysyndactyly orofacial anomalies
      * Polysyndactyly overgrowth syndrome
      * Polysyndactyly trigonocephaly agenesis of corpus callosum
      * Polysyndactyly type 4
      * Polysyndactyly type Haas
      * Poncet-Spiegler's cylindroma
      * Pontoneocerebellar Hypoplasia
      * Popliteal pterygium syndrome
      * Popliteal pterygium syndrome lethal type
      * Porencephaly
      * Porencephaly cerebellar hypoplasia malformations
      * Porokeratosis of Mibelli
      * Porokeratosis plantaris palmaris et disseminata
      * Porokeratosis punctata palmaris et plantaris
      * Porokeratosis, disseminated superficial actinic 1
      * Porokeratosis, disseminated superficial actinic 2
      * Porphyria cutanea tarda
      * Porphyria, Ala-D
      * Porphyria, Chester type
      * Porphyria, congenital erythropoietic
      * Portal hypertension
      * Portal hypertension due to infrahepatic block
      * Portal thrombosis
      * Portal vein thrombosis
      * Portuguese type amyloidosis
      * Positive rheumatoid factor polyarthritis
      * Post Polio syndrome
      * Postaxial polydactyly mental retardation
      * Posterior column ataxia
      * Posterior column ataxia with retinitis pigmentosa
      * Posterior tibial tendon rupture
      * Posterior urethral valves
      * Posterior valve urethra
      * Post-infectious myocarditis
      * Post-infectious reactive arthropathy
      * Post-Streptococcal Neurologic Disorders
      * Post-transplant lymphoproliferative disease
      * Post-traumatic epilepsy
      * Postural hypotension
      * Postural orthostatic tachycardia syndrome
      * Potassium aggravated myotonia
      * Potato nose
      * Potocki-Lupski syndrome
      * Potocki-Shaffer syndrome
      * Potter disease type 1
      * Potter disease, type 3
      * Potter sequence cleft cardiopathy
      * Potter syndrome dominant type
      * Powell Buist Stenzel syndrome
      * Powell Chandra Saal syndrome
      * Powell Venencie Gordon syndrome
      * Poxviridae disease
      * Prader-Willi habitus, osteopenia, and camptodactyly
      * Prader-Willi syndrome
      * Prata Libéral Gonçalves syndrome
      * Preaxial deficiency, postaxial polydactyly and hypospadias
      * Preaxial polydactyly colobomata mental retardation
      * Precocious epileptic encephalopathy
      * Precocious myoclonic encephalopathy
      * Precocious puberty
      * Precocious puberty, gonadotropin-dependent
      * Preeclampsia
      * Preeyasombat Varavithya syndrome
      * Prekallikrein deficiency, congenital
      * Premature aging
      * Premature aging, Okamoto type
      * Premature atherosclerosis with photomyoclonic epilepsy, deafness, diabetes mellitus, nephropathy, an
      * Premature ovarian failure, familial
      * Presbycusis
      * Presenile dementia, Kraepelin type
      * Priapism
      * Prieto X-linked mental retardation syndrome
      * Primary agammaglobulinemia
      * Primary aldosteronism
      * Primary amebic meningoencephalitis
      * Primary angiitis of the central nervous system
      * Primary biliary cirrhosis
      * Primary ciliary dyskinesia
      * Primary ciliary dyskinesia, 2
      * Primary ciliary dyskinesia, 3
      * Primary ciliary dyskinesia, 4
      * Primary cortisol resistance
      * Primary craniosynostosis
      * Primary cutaneous amyloidosis
      * Primary effusion lymphoma
      * Primary familial xanthomatosis with involvement and calcification of the adrenal galnds
      * Primary granulocytic sarcoma
      * Primary hyperoxaluria type 1
      * Primary hyperoxaluria type 2
      * Primary immunodeficiency disorders
      * Primary lateral sclerosis juvenile
      * Primary malignant lymphoma
      * Primary malignant melanoma of the cervix
      * Primary open angle glaucoma juvenile onset 1
      * Primary orthostatic tremor
      * Primary progressive aphasia
      * Primary sclerosing cholangitis
      * Primary tubular proximal acidosis
      * Primordial microcephalic dwarfism Crachami type
      * Primrose syndrome
      * Prinzmetal's variant angina
      * Procarcinoma
      * Proconvertin deficiency, congenital
      * Proctitis
      * Progeria short stature pigmented nevi
      * Progeria variant syndrome Ruvalcaba type
      * Progeroid syndrome De Barsy type
      * Progeroid syndrome Petty type
      * Progeroid syndrome, neonatal
      * Progeroid syndrome, Penttinen type
      * Prognathism dominant
      * Progressive acromelanosis
      * Progressive black carbon hyperpigmentation of infancy
      * Progressive external ophthalmoplegia
      * Progressive hearing loss stapes fixation
      * Progressive hemifacial atrophy
      * Progressive kinking of the hair, acquired
      * Progressive multifocal leukoencephalopathy
      * Progressive myositis ossificans
      * Progressive osseous heteroplasia
      * Progressive spinal muscular atrophy
      * Progressive supranuclear palsy
      * Progressive supranuclear palsy atypical
      * Prolactinoma, familial
      * Prolerating trichilemmal cyst
      * Prolidase deficiency
      * Prolymphocytic leukemia
      * Properdin deficiency
      * Properdin deficiency, X-linked
      * Prosencephaly cerebellar dysgenesis
      * Prosopagnosia, hereditary
      * Prostate cancer, familial
      * Prostatic malacoplakia associated with prostatic abscess
      * Prostatic stromal proliferation of uncertain malignant potential
      * Protein R deficiency
      * Protein S acquired deficiency
      * Protein S deficiency
      * Proteus like syndrome mental retardation eye defect
      * Proteus syndrome
      * Prothrombin deficiency
      * Protoporphyria
      * Proud Levine Carpenter syndrome
      * Proximal spinal muscular atrophy
      * Prune belly syndrome
      * Prurigo nodularis
      * Pruritic urticarial papules plaques of pregnancy
      * Pseudoachondroplasia
      * Pseudoachondroplastic dysplasia 2
      * Pseudoainhum
      * Pseudoaldosteronism
      * Pseudoaminopterin syndrome
      * Pseudoangiomatous stromal hyperplasia
      * Pseudoarylsulfatase A deficiency
      * Pseudocholinesterase deficiency
      * Pseudodiastrophic dysplasia
      * Pseudohermaphrodism anorectal anomalies
      * Pseudohermaphroditism
      * Pseudohermaphroditism female skeletal anomalies
      * Pseudohermaphroditism male with gynecomastia
      * Pseudohyperkalemia Cardiff
      * Pseudohypoaldosteronism type 1, autosomal dominant
      * Pseudohypoaldosteronism type 1, autosomal recessive
      * Pseudohypoaldosteronism type 2
      * Pseudohypoparathyroidism
      * Pseudoinflammatory fundus dystrophy
      * Pseudomarfanism
      * Pseudomonas stutzeri infections
      * Pseudomongolism
      * Pseudomyotonia
      * Pseudomyxoma peritonei
      * Pseudoobstruction idiopathic intestinal
      * Pseudopapilledema blepharophimosis hand anomalies
      * Pseudo-Pelade of Brocq
      * Pseudopolycythaemia
      * Pseudoprogeria syndrome
      * Pseudotrisomy 13 syndrome
      * Pseudotumor cerebri
      * Pseudo-Turner syndrome
      * Pseudovaginal perineoscrotal hypospadias
      * Pseudoxanthoma elasticum
      * Pseudoxanthoma elasticum, dominant form
      * Pseudoxanthoma elasticum, forme fruste
      * Pseudoxanthoma elasticum, recessive form
      * Pseudo-Zellweger syndrome
      * Psittacosis
      * Pterigium Colli
      * Pterygia mental retardation facial dysmorphism
      * Pterygium colli mental retardation digital anomalies
      * Pterygium of the conjunctiva
      * Pterygium syndrome antecubital
      * Pterygium syndrome multiple dominant type
      * Pterygium syndrome X-linked
      * Ptosis coloboma mental retardation
      * Ptosis coloboma trigonocephaly
      * Ptosis strabismus diastasis
      * Ptosis strabismus ectopic pupils
      * Pulmonar arterioveinous aneurysm
      * Pulmonary alveolar proteinosis
      * Pulmonary alveolar proteinosis, congenital
      * Pulmonary arterio-veinous fistula
      * Pulmonary arteriovenous malformation
      * Pulmonary artery agenesis
      * Pulmonary artery coming from the aorta
      * Pulmonary artery familial dilatation
      * Pulmonary artery, isolated unilateral absence of (Isolated UAPA)
      * Pulmonary artery, unilateral absence of (UAPA)
      * Pulmonary atresia with ventricular septal defect
      * Pulmonary branches stenosis
      * Pulmonary cystic lymphangiectasis
      * Pulmonary edema of mountaineers
      * Pulmonary fibrosis /granuloma
      * Pulmonary hypoplasia familial primary
      * Pulmonary sequestration
      * Pulmonary supravalvular stenosis
      * Pulmonary surfactant protein B, deficiency of
      * Pulmonary valve stenosis
      * Pulmonary valves agenesis
      * Pulmonary veins stenosis
      * Pulmonary venoocclusive disease
      * Pulmonary veno-occlusive disease
      * Pulmonary venous return anomaly
      * Pulmonaryatresia intact ventricular septum
      * Pulmonic stenosis
      * Punctate acrokeratoderma freckle like pigmentation
      * Punctate inner choroidopathy
      * Pure red cell aplasia
      * Puretic syndrome
      * Purine nucleoside phosphorylase deficiency
      * Purpura simplex
      * Purtilo syndrome
      * Pycnodysostosis
      * Pyknoachondrogenesis
      * Pyle disease
      * Pyoderma gangrenosum
      * Pyogenic arthritis, pyoderma gangrenosum, and acne
      * Pyomyositis
      * Pyridoxine deficiency
      * Pyridoxine-dependent epilepsy
      * Pyrimidinemia familial
      * Pyropoikilocytosis
      * Pyrosis
      * Pyruvate carboxylase deficiency
      * Pyruvate decarboxylase deficiency
      * Pyruvate dehydrogenase deficiency
      * Pyruvate dehydrogenase phosphatase deficiency
      * Pyruvate kinase deficiency
      * Pyruvate kinase deficiency, liver type
      * Pyruvate kinase deficiency, muscle type

    7. #7
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      Q


      * Q fever
      * Qazi Markouizos syndrome
      * Quebec platelet disorder
      * Quinquaud's decalvans folliculitis



      R


      * Rabies
      * Rabson-Mendenhall syndrome
      * Radial defect Robin sequence
      * Radial hypoplasia, triphalangeal thumbs and hypospadias
      * Radial ray hypoplasia choanal atresia
      * Radiation induced angiosarcoma of the breast
      * Radiation induced brachial plexopathy
      * Radiation induced meningioma
      * Radiation related neoplasm
      * Radio digito facial dysplasia
      * Radio renal syndrome
      * Radioulnar synostosis retinal pigment abnormalities
      * Radio-ulnar synostosis type 1
      * Radio-ulnar synostosis type 2
      * Radius absent anogenital anomalies
      * Raine syndrome
      * Rambaud Galian syndrome
      * Ramer Ladda syndrome
      * Ramon Syndrome
      * Ramos Arroyo Clark syndrome
      * Ramsay Hunt syndrome
      * Rapadilino syndrome
      * Rapp-Hodgkin syndrome
      * Rasmussen encephalitis
      * Rasmussen Johnsen Thomsen syndrome
      * Rasmussen subacute encephalitis
      * Rat bite fever
      * Ray Peterson Scott syndrome
      * Reactive angioendotheliomatosis
      * Reactive attachment disorder of early childhood
      * Reactive attachment disorder of infancy
      * Reardon Hall Slaney syndrome
      * Reardon Wilson Cavanagh syndrome
      * Recombinant chromosome 8 syndrome
      * Rectal cancer
      * Rectal neoplasm
      * Rectosigmoid neoplasm
      * Recurrent peripheral facial palsy
      * Recurrent respiratory papillomatosis
      * Red cell phospholipid defect with hemolysis
      * Red skin pigment anomaly of New Guinea
      * Reductional transverse limb defects
      * Reed's syndrome
      * Reflex sympathetic dystrophy syndrome
      * Refractory anemia
      * Refsum disease
      * Refsum disease with increased pipecolic acidemia
      * Refsum disease, infantile form
      * Reginato Shiapachasse syndrome
      * Reiter's Syndrome
      * Renal adysplasia dominant type
      * Renal agenesis meningomyelocele mullerian defect
      * Renal agenesis, bilateral
      * Renal artery stenosis
      * Renal caliceal diverticuli deafness
      * Renal cancer
      * Renal carcinoma, familial
      * Renal cell carcinoma 4
      * Renal cysts and diabetes syndrome
      * Renal dysplasia - limb defects syndrome
      * Renal dysplasia diffuse autosomal recessive
      * Renal dysplasia diffuse cystic
      * Renal dysplasia limb defects
      * Renal dysplasia megalocystis sirenomelia
      * Renal dysplasia mesomelia radiohumeral fusion
      * Renal genital middle ear anomalies
      * Renal glycosuria
      * Renal hepatic pancreatic dysplasia Dandy Walker cyst
      * Renal hypouricemia
      * Renal osteodystrophy
      * Renal pelvis and ureter, transitional cell cancer
      * Renal rickets
      * Renal tubular acidosis
      * Renal tubular acidosis progressive nerve deafness
      * Renal tubular acidosis, distal
      * Renal tubular acidosis, distal, autosomal dominant
      * Renal tubular acidosis, distal, autosomal recessive
      * Renal tubular acidosis, distal, type 3
      * Renal tubular acidosis, distal, type 4
      * Renal tubular transport disorders inborn
      * Renal tubulopathy, diabetes mellitus, and cerebellar ataxia due to duplication of mitochondrial dna
      * Renier Gabreels Jasper syndrome
      * Renoanogenital syndrome
      * Renoprival hypertension
      * Renpenning syndrome 1
      * Resistance to LH (luteinizing hormone)
      * Resistance to thyroid stimulating hormone
      * Respiratory chain deficiency malformations
      * Respiratory distress syndrome, infant
      * Restless legs syndrome 2
      * Reticular dysgenesis
      * Reticuloendotheliosis
      * Retinal cone dystrophy 2
      * Retinal degeneration
      * Retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma
      * Retinal dysplasia X-linked
      * Retinal telangiectasia hypogammaglobulinemia
      * Retinis pigmentosa deafness hypogenitalism
      * Retinitis pigmentosa 1
      * Retinitis pigmentosa mental retardation deafness
      * Retinitis pigmentosa-deafness syndrome
      * Retinoblastoma
      * Retinohepatoendocrinologic syndrome
      * Retinopathy anemia CNS anomalies
      * Retinopathy aplastic anemia neurological abnormalities
      * Retinopathy of prematurity
      * Retinopathy pigmentary mental retardation
      * Retinopathy, arteriosclerotic
      * Retinoschisis
      * Retinoschisis autosomal dominant
      * Retinoschisis of Fovea
      * Retroperitoneal fibrosis
      * Retroperitoneal liposarcoma
      * Rett like syndrome
      * Rett syndrome
      * Revesz Debuse syndrome
      * Reye syndrome
      * Reynolds Neri Hermann syndrome
      * Reynolds syndrome
      * Rhabditida Infections
      * Rhabdoid tumor
      * Rhabdomyomatous dysplasia cardiopathy genital anomalies
      * Rhabdomyosarcoma 1
      * Rhabdomyosarcoma 2
      * Rhabdomyosarcoma of the orbit
      * Rhabdomyosarcoma, embryonal
      * Rheumatic Fever
      * Rheumatoid nodulosis
      * Rheumatoid vasculitis
      * Rhizomelic chondrodysplasia punctata, type 2
      * Rhizomelic chondrodysplasia punctata, type 3
      * Rhizomelic dysplasia Patterson Lowry type
      * Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa
      * Rhizomelic pseudopolyarthritis
      * Rhizomelic syndrome
      * RHYNS syndrome
      * Ribbing disease
      * Richards-Rundle syndrome
      * Richieri Costa Da Silva syndrome
      * Richieri Costa Guion Almeida Rodini syndrome
      * Richieri Costa Guion-Almeida syndrome
      * Richieri Costa Orquizas syndrome
      * Richieri Costa Pereira syndrome
      * Richieri-Costa Colletto Otto syndrome
      * Richieri-Costa Guion-Almeida Cohen syndrome
      * Richter syndrome
      * Rickets
      * Rickettsial disease
      * Rickettsiosis
      * Rieger syndrome
      * Rieger syndrome 2
      * Right atrium familial dilatation
      * Right pulmonary artery, anomalous origin of, familial
      * Right ventricle hypoplasia
      * Rigid spine syndrome
      * Ring dermoid of cornea
      * Ringed hair disease
      * Rippling muscle disease
      * Rippling muscle disease, 1
      * Roberts Syndrome
      * Robin sequence and oligodactyly
      * Robinow Sorauf syndrome
      * Robinow syndrome, autosomal recessive
      * Robinson Miller Bensimon syndrome
      * Roch-Leri mesosomatous lipomatosis
      * Rocky Mountain spotted fever
      * Rod myopathy
      * Rodini Richieri Costa syndrome
      * Rodrigues blindness
      * Roifman syndrome
      * Rokitansky Kuster Hauser syndrome
      * Rokitansky sequence
      * Rokitansky-Aschoff sinuses of the gallbladder
      * Rombo syndrome
      * Rommen Mueller Sybert syndrome
      * Rosai-Dorfman disease
      * Rosenberg Chutorian syndrome
      * Rotor syndrome
      * Roussy Levy hereditary areflexic dystasia
      * Rowley-Rosenberg syndrome
      * Roy Maroteaux Kremp syndrome
      * Rozin Hertz Goodman syndrome
      * Rubella
      * Rubella virus antenatal infection
      * Rubella, congenital
      * Rubinstein Taybi like syndrome
      * Rubinstein-Taybi syndrome
      * Rud Syndrome
      * Rudd Klimek syndrome
      * Rufous oculocutaneous albinism
      * Rumination disorder
      * Ruvalcaba Churesigaew Myhre syndrome
      * Ruvalcaba syndrome
      * Ruzicka Goerz Anton syndrome




      S


      * Saal Bulas syndrome
      * Sabinas brittle hair syndrome
      * Saccharopinuria
      * Sackey Sakati Aur syndrome
      * Sacral agenesis
      * Sacral defect and anterior sacral meningocele
      * Sacral hemangiomas multiple congenital abnormalities
      * Sacral meningocele conotruncal heart defects
      * Sacral plexopathy
      * Sacrococcygeal dysgenesis association
      * Saethre-Chotzen syndrome
      * Saito Kuba Tsuruta syndrome
      * Sakati syndrome
      * Salcedo syndrome
      * Salivary gland cancer, adult
      * Salla disease
      * Sallis Beighton syndrome
      * Sammartino Decreccio syndrome
      * Samson Gardner syndrome
      * Samson Viljoen syndrome
      * Sanderson Fraser syndrome
      * Sandhaus Ben-Ami syndrome
      * Sandhoff disease
      * Sandifer syndrome
      * Sanfilippo syndrome
      * Santos Mateus Leal syndrome
      * SAPHO syndrome
      * Sarcoidosis
      * Sarcoidosis, pulmonary
      * Sarcoma botryoides
      * Sarcosinemia
      * SARS
      * Satoyoshi syndrome
      * Saul Wilkes Stevenson syndrome
      * Say Barber Miller syndrome
      * Say Carpenter syndrome
      * Say Field Coldwell syndrome
      * Say Meyer syndrome
      * Say syndrome
      * Scalp defects postaxial polydactyly
      * Scalp ear nipple syndrome
      * Scaphotrapeziotrapezoid arthrodesis
      * Scapuloperoneal myopathy
      * SCARF syndrome
      * Schaap Taylor Baraitser syndrome
      * Schaefer Stein Oshman syndrome
      * Scheurermann's disease
      * Schimke immunoosseous dysplasia
      * Schimke X-linked mental retardation syndrome
      * Schindler disease, type 1
      * Schinzel Giedion syndrome
      * Schisis association
      * Schistosomiasis
      * Schizencephaly
      * Schizophrenia mental retardation deafness retinitis
      * Schizotaxia
      * Schlegelberger Grote syndrome
      * Schmidt syndrome
      * Schmitt Gillenwater Kelly syndrome
      * Schneckenbecken dysplasia
      * Scholte syndrome
      * Schrander-Stumpel Theunissen Hulsmans syndrome
      * Schroer Hammer Mauldin syndrome
      * Schwannoma, malignant
      * Schwannomatosis
      * Schwartz Cohen-Addad Lambert syndrome
      * Schwartz Jampel syndrome
      * Schwartz-Lelek syndrome
      * Scleredema
      * Scleroatonic muscular dystrophy
      * Sclerocornea, Syndactyly, ambiguous genitalia
      * Scleroderma, diffuse
      * Scleroderma, linear
      * Scleromyxedema
      * Sclerosing bone dysplasia mental retardation
      * Sclerosing lymphocytic lobulitis
      * Sclerosing Mesenteritis
      * Sclerosteosis
      * Sclerotylosis
      * Scoliosis as part of NF
      * Scoliosis with unilateral unsegmented bar
      * SCOT deficiency
      * Scott Bryant Graham syndrome
      * Scott syndrome
      * Sea-Blue histiocytosis
      * Seaver Cassidy syndrome
      * Sebaceous gland hyperplasia, familial presenile
      * Sebastian syndrome
      * Sebocystomatosis
      * Secernentea Infections
      * Seckel like syndrome Majoor Krakauer type
      * Seckel like syndrome type Buebel
      * Seckel syndrome 1
      * Seckel syndrome 2
      * Secondary pulmonary hypertension
      * Secretory breast carcinoma
      * Seemanova Lesny syndrome
      * Segawa syndrome, autosomal recessive
      * Seghers syndrome
      * Segmental vertebral anomalies
      * Segmentation syndrome 1
      * Seizures benign familial neonatal recessive form
      * Seizures mental retardation hair dysplasia
      * Selenium poisoning
      * Selig Benacerraf Greene syndrome
      * Seminoma
      * Semmerkrot Haraldsson Weenaes syndrome
      * Sener syndrome
      * Sengers Hamel Otten syndrome
      * Senior Loken Syndrome
      * Senior syndrome
      * Senior-Loken syndrome 4
      * Sennetsu Fever
      * Sensorineural hearing loss
      * Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
      * Sensory neuropathy type 1
      * Senter syndrome
      * Seow Najjar syndrome
      * Septo-optic dysplasia
      * Septooptic dysplasia digital anomalies
      * Sequeiros Sack syndrome
      * Seres-Santamaria Arimany Muniz syndrome
      * Serious digitalis intoxication
      * Serpentine fibula polycystic kidney syndrome
      * Sertoli cell-only syndrome, Y-linked
      * Sertoli-leydig cell tumors
      * Severe achondroplasia with developmental delay and acanthosis nigricans
      * Severe combined immunodeficiency
      * Severe combined immunodeficiency with sensitivity to ionizing radiation
      * Severe combined immunodeficiency, atypical
      * Severe combined immunodeficiency, X-linked
      * Severe congenital neutropenia
      * Severe infantile axonal neuropathy
      * Severe mental retardation and absent nails of hallux and pollex
      * Sezary syndrome
      * Shapiro syndrome
      * Sharma Kapoor Ramji syndrome
      * Sharp syndrome
      * Shaver's disease
      * Sheehan syndrome
      * Shigellosis
      * Shith Filkins syndrome
      * Short broad great toe macrocranium
      * Short chain Acyl CoA dehydrogenase deficiency
      * Short limb dwarf edema iris coloboma
      * Short limb dwarf lethal Colavita Kozlowski type
      * Short limb dwarf lethal Mcalister Crane type
      * Short limb dwarfism Al Gazali type
      * Short limbs abnormal face congenital heart disease
      * Short limbs subluxed knees cleft palate
      * Short rib-polydactyly syndrome
      * Short rib-polydactyly syndrome, Beemer type
      * Short rib-polydactyly syndrome, Majewski type
      * Short rib-polydactyly syndrome, Saldino-Noonan type
      * Short rib-polydactyly syndrome, Verma-Naumoff type
      * Short ribs craniosynostosis polysyndactyly
      * Short stature abnormal skin pigmentation mental retardation
      * Short stature and locking fingers
      * Short stature contractures hypotonia
      * Short stature cranial hyperostosis hepatomegaly
      * Short stature deafness neutrophil dysfunction
      * Short stature dysmorphic face pelvic scapula dysplasia
      * Short stature hyperkaliemia acidosis
      * Short stature mental retardation eye anomalies
      * Short stature mental retardation eye defects
      * Short stature microcephaly seizures deafness
      * Short stature monodactylous ectrodactyly cleft palate
      * Short stature prognathism short femoral necks
      * Short stature Robin sequence cleft mandible hand anomalies clubfoot
      * Short stature syndrome, Brussels type
      * Short stature talipes natal teeth
      * Short stature valvular heart disease
      * Short stature webbed neck heart disease
      * Short stature wormian bones dextrocardia
      * Short stature, cranial hyperostosis, hepatomegaly and diabetes
      * SHORT syndrome
      * Short tarsus absence of lower eyelashes
      * Shoulder and thorax deformity congenital heart disease
      * Shoulder girdle defect mental retardation familial
      * Shprintzen Golberg craniosynostosis
      * Shprintzen omphalocele syndrome
      * Shprintzen omphalocele syndrome
      * Shwachman syndrome
      * Shwachman-Diamond syndrome
      * Shwartzman phenomenon
      * Sialadenitis
      * Sialidosis
      * Sialidosis type 1 and 3
      * Sialuria, French type
      * Sickle cell anemia
      * Sickle cell crisis
      * Siderius X-linked mental retardation syndrome
      * Sideroblastic anemia, autosomal
      * Siderosis
      * Siegler Brewer Carey syndrome
      * Silengo Lerone Pelizza syndrome
      * Silicosiderosis
      * Silicosis
      * Sillence syndrome
      * Silver-Russell dwarfism
      * Silvery hair syndrome
      * Simian B virus infection
      * Simosa cranio facial syndrome
      * Simpson-Golabi-Behmel syndrome
      * Sine scleroderma
      * Singh Chhaparwal Dhanda syndrome
      * Single upper central incisor
      * Single ventricular heart
      * Singleton Merten syndrome
      * Sino-auricular heart block
      * Sinonasal undifferentiated carcinoma
      * Sinus cancer
      * Sinus histiocytosis
      * Sinus node disease and myopia
      * Sirenomelia
      * Sitosterolemia
      * Situs inversus totalis with cystic dysplasia of kidneys and pancreas
      * Situs inversus viscerum
      * Situs inversus, X-linked
      * Sixth nerve palsy
      * Sjogren-Larsson syndrome
      * Sjogren-Larsson-like syndrome
      * Sjögren-Mikulicz syndrome
      * Sjogren's syndrome, juvenile, secondary to autoimmune disease
      * Skeletal dysplasia brachydactyly
      * Skeletal dysplasia orofacial anomalies
      * Skeletal dysplasia, San Diego type
      * Skeletal dysplasias
      * Skeleto cardiac syndrome with thrombocytopenia
      * Sketetal dysplasia coarse facies mental retardation
      * Slavotinek Pike Mills Hurst syndrome
      * Slti Salem syndrome
      * Sly syndrome
      * Small cell lung cancer, adult
      * Small intestine cancer, adult
      * Small non-cleaved cell lymphoma
      * Smith Lemli Opitz syndrome, type 1
      * Smith Martin Dodd syndrome
      * Smith-Lemli-Opitz syndrome, type 2
      * Smith-Magenis Syndrome
      * Sneddon Syndrome
      * Snowflake vitreoretinal degeneration
      * Snyder Robinson syndrome
      * Soft tissue sarcomas
      * Sohval Soffer syndrome
      * Somatostatinoma
      * Sommer Hines syndrome
      * Sommer Rathbun Battles syndrome
      * Sommer Young Wee Frye syndrome
      * Sondheimer syndrome
      * Sonoda syndrome
      * Sosby syndrome
      * Sotos syndrome
      * Southwestern Athabaskan genetic diseases
      * Sparse hair ptosis mental retardation
      * Spasmodic dysphonia
      * Spastic angina with healthy coronary artery
      * Spastic ataxia Charlevoix-Saguenay type
      * Spastic diplegia infantile type
      * Spastic dysphonia
      * Spastic paraparesis
      * Spastic paraparesis deafness
      * Spastic paraplegia 10, autosomal dominant
      * Spastic paraplegia 11, autosomal recessive
      * Spastic paraplegia 12, autosomal dominant
      * Spastic paraplegia 13, autosomal dominant
      * Spastic paraplegia 14, autosomal recessive
      * Spastic paraplegia 15, autosomal recessive
      * Spastic paraplegia 16, X-linked
      * Spastic paraplegia 17
      * Spastic paraplegia 19, autosomal dominant
      * Spastic paraplegia 2, X-linked
      * Spastic paraplegia 20, autosomal recessive
      * Spastic paraplegia 23
      * Spastic paraplegia 24
      * Spastic paraplegia 25, autosomal recessive
      * Spastic paraplegia 26, autosomal recessive
      * Spastic paraplegia 29, autosomal dominant
      * Spastic paraplegia 3, autosomal dominant
      * Spastic paraplegia 4, autosomal dominant
      * Spastic paraplegia 6, autosomal dominant
      * Spastic paraplegia 8, autosomal dominant
      * Spastic paraplegia 9, autosomal dominant
      * Spastic paraplegia epilepsy mental retardation
      * Spastic paraplegia nephritis deafness
      * Spastic paraplegia neuropathy poikiloderma
      * Spastic paraplegia type 1, X-linked
      * Spastic paraplegia type 5A, recessive
      * Spastic paraplegia type 5B, recessive
      * Spastic paraplegia with Kallmann syndrome
      * Spastic paraplegia with precocious puberty
      * Spastic paraplegia, familial
      * Spastic paresis glaucoma mental retardation
      * Spastic quadriplegia retinitis pigmentosa mental retardation
      * Spastic tetraplegic cerebral palsy
      * Spasticity mental retardation
      * Spasticity multiple exostoses
      * Spellacy gibbs watts syndrome
      * Spermatogenesis arrest
      * Spherocytosis
      * Spheroid body myopathy
      * Spherophakia brachymorphia syndrome
      * Sphingolipidosis
      * Spiegler-Brooke syndrome
      * Spielmeyer-Vogt disease
      * Spina bifida
      * Spina bifida hypospadias
      * Spinal atrophy ophthalmoplegia pyramidal syndrome
      * Spinal bulbar motor neuropathy
      * Spinal bulbar muscular atrophy
      * Spinal cord neoplasm
      * Spinal dysostosis type Anhalt
      * Spinal intradural arachnoid cysts
      * Spinal muscular atrophy
      * Spinal muscular atrophy type 2
      * Spinal muscular atrophy type I with congenital bone fractures
      * Spinal muscular atrophy with respiratory distress 1
      * Spinal muscular atrophy, Ryukyuan type
      * Spinal muscular atrophy, type 3
      * Spinal shock
      * Spine rigid cardiomyopathy
      * Spinocerebellar ataxia 1
      * Spinocerebellar ataxia 13
      * Spinocerebellar ataxia 14
      * Spinocerebellar ataxia 18
      * Spinocerebellar ataxia 19
      * Spinocerebellar ataxia 2
      * Spinocerebellar ataxia 20
      * Spinocerebellar ataxia 21
      * Spinocerebellar ataxia 23
      * Spinocerebellar ataxia 25
      * Spinocerebellar ataxia 26
      * Spinocerebellar ataxia 27
      * Spinocerebellar ataxia 28
      * Spinocerebellar ataxia 3
      * Spinocerebellar ataxia 30
      * Spinocerebellar ataxia 4
      * Spinocerebellar ataxia 5
      * Spinocerebellar ataxia 7
      * Spinocerebellar ataxia 8
      * Spinocerebellar ataxia amyotrophy deafness
      * Spinocerebellar ataxia dysmorphism
      * Spinocerebellar ataxia, autosomal recessive 1
      * Spinocerebellar ataxia, autosomal recessive 3
      * Spinocerebellar ataxia, autosomal recessive 4
      * Spinocerebellar ataxia, autosomal recessive 5
      * Spinocerebellar ataxia, autosomal recessive 6
      * Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy
      * Spinocerebellar ataxia, X-linked, 2
      * Spinocerebellar ataxia, X-linked, 3
      * Spinocerebellar ataxia, X-linked, 4
      * Spinocerebellar degeneration corneal dystrophy
      * Spinocerebellar degenerescence book type
      * Spirochetes disease
      * Spirurida Infections
      * Spleen neoplasm
      * Splenic agenesis syndrome
      * Splenic infarcts
      * Splenogonadal fusion limb defects micrognatia
      * Splenomegaly
      * Split hand split foot malformation autosomal recessive
      * Split hand split foot mandibular hypoplasia
      * Split hand split foot nystagmus
      * Split hand urinary anomalies spina bifida
      * Split hand/foot malformation X-linked
      * Split-hand deformity
      * Spondylarthritis
      * Spondylarthropathies
      * Spondylarthropathy
      * Spondylitis
      * Spondylo costal dysostosis dandy walker
      * Spondylocamptodactyly
      * Spondylocarpotarsal synostosis
      * Spondylocostal dysostosis, autosomal recessive
      * Spondylocostal dysplasia dominant
      * Spondyloenchondrodysplasia
      * Spondyloepimetaphyseal dysplasia
      * Spondyloepimetaphyseal dysplasia congenita, Iraqi
      * Spondyloepimetaphyseal dysplasia joint laxity
      * Spondyloepimetaphyseal dysplasia with hypotrichosis
      * Spondyloepimetaphyseal dysplasia with multiple dislocations
      * Spondyloepimetaphyseal dysplasia, Genevieve type
      * Spondyloepimetaphyseal dysplasia, sponastrime type
      * Spondyloepiphyseal dysplasia
      * Spondyloepiphyseal dysplasia nephrotic syndrome
      * Spondyloepiphyseal dysplasia tarda
      * Spondyloepiphyseal dysplasia tarda progressive art
      * Spondyloepiphyseal dysplasia tarda, Toledo type
      * Spondyloepiphyseal dysplasia, congenita
      * Spondyloepiphyseal dysplasia, Omani type
      * Spondylohypoplasia, arthrogryposis and popliteal pterygium
      * Spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism
      * Spondylometaphyseal dysplasia with dentinogenesis imperfecta
      * Spondylometaphyseal dysplasia, Algerian type
      * Spondylometaphyseal dysplasia, axial
      * Spondylometaphyseal dysplasia, 'corner fracture' type
      * Spondylometaphyseal dysplasia, east-African type
      * Spondylometaphyseal dysplasia, Kozlowski type
      * Spondylometaphyseal dysplasia, Sedaghatian type
      * Spondylometaphyseal dysplasia, X-linked
      * Spondyloperipheral dysplasia short ulna
      * Spongiform encephalopathy
      * Spontaneous periodic hypothermia
      * Spontaneous pneumothorax familial type
      * Sporotrichosis
      * Spotted fever
      * Spranger Schinzel Myers syndrome
      * Sprengel deformity
      * Squamous cell carcinoma
      * SSADH deficiency (succinic semialdehyde dehydrogenase deficiency)
      * St. Anthony's fire
      * Stachybotrys chartarum
      * Stalker chitayat syndrome
      * Stampe sorensen syndrome
      * Staphylococcal food poisoning
      * Staphylococcal toxic shock syndrome
      * Stargardt disease 1
      * Stargardt disease 3
      * Stargardt disease 4
      * Status epilepticus
      * Steatocystoma multiplex
      * Steatocystoma multiplex with natal teeth
      * Steinfeld syndrome
      * Stenotrophomonas maltophilia
      * Sterility due to immotile flagella
      * Stern Lubinsky Durrie syndrome
      * Sternal cleft
      * Sternal cyst vascular anomalies
      * Sternal malformation vascular dysplasia associatio
      * Steroid dehydrogenase deficiency dental anomalies
      * Stevens-Johnson syndrome
      * Stewart Treves syndrome
      * Stickler syndrome, type 1
      * Stickler syndrome, type 2
      * Stickler syndrome, type 3
      * Stiff skin syndrome
      * Stiff-person syndrome
      * Still's disease
      * Stimmler syndrome
      * Stocco dos Santos syndrome
      * Stoelinga de Koomen Davis syndrome
      * Stoll Alembik Dott syndrome
      * Stoll alembik finck syndrome
      * Stoll geraudel chauvin syndrome
      * Stoll kieny dott syndrome
      * Stoll Levy Francfort syndrome
      * Stomach cancer
      * Stomach cancer, familial
      * Storage pool platelet disease
      * Storm syndrome
      * Stratton garcia young syndrome
      * Stratton Parker syndrome
      * Streptococcal Group A invasive disease
      * Streptococcal Group B invasive disease
      * Striatonigral degeneration infantile
      * Strongyloidiasis
      * Strudwick syndrome
      * Stuart factor deficiency, congenital
      * Stuccokeratosis
      * Sturge-Weber syndrome
      * Stuve-Wiedemann syndrome
      * Subacute sclerosing panencephalitis
      * Subcortical laminar heterotopia
      * Subcutaneous panniculitis-like T-cell lymphoma
      * Subependymal nodular heterotopia
      * Subependymoma
      * Subpulmonary stenosis
      * Subvalvular aortic stenosis
      * Succinate coenzyme Q reductase deficiency of
      * Succinic acidemia
      * Succinic acidemia lactic acidosis congenital
      * Succinyl-CoA acetoacetate transferase deficiency
      * Sucrase-isomaltase deficiency, congenital
      * Sudden Arrhythmia Death Syndrome
      * Sudden infant death syndrome
      * Sugarman syndrome
      * Sulfite oxidase deficiency
      * Summitt syndrome
      * SUNCT headache
      * Superficial siderosis of the central nervous system
      * Superficial spreading melanoma
      * Superior mesenteric artery syndrome
      * Superior vena cava syndrome
      * Supernumerary nipples
      * Supraglottic laryngeal cancer
      * Supranuclear ocular palsy
      * Supraumbilical midabdominal raphe and facial cavernous hemangiomas
      * Susac syndrome
      * Sutton disease 2
      * Swyer James & McLeod Syndrome
      * Swyer syndrome
      * Sybert Smith syndrome
      * Sydenham's chorea
      * Symmastia
      * Symmetrical thalamic calcifications
      * Symphalangism brachydactyly
      * Symphalangism brachydactyly craniosynostosis
      * Symphalangism distal
      * Symphalangism familial proximal
      * Symphalangism short stature accessory testis
      * Symphalangism with multiple anomalies of hands and feet
      * Symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch
      * Syncamptodactyly scoliosis
      * Syncopal paroxysmal tachycardia
      * Syncopal tachyarythmia
      * Syncope, familial neurocardiogenic
      * Syndactyly
      * Syndactyly cataract mental retardation
      * Syndactyly Cenani Lenz type
      * Syndactyly ectodermal dysplasia cleft lip palate hand foot
      * Syndactyly type 5
      * Syndactyly type I with microcephaly and mental retardation
      * Syndactyly, type 2
      * Syndactyly, type 3
      * Syndactyly, type v
      * Syndactyly-polydactyly-ear lobe syndrome
      * Syndrome X
      * Syngnathia cleft palate
      * Syngnathia multiple anomalies
      * Synostoses, tarsal, carpal, and digital
      * Synostosis of talus and calcaneus short stature
      * Synovial cancer
      * Synovial osteochondromatosis
      * Synovial sarcoma
      * Synovitis
      * Synovitis acne pustulosis hyperostosis osteitis
      * Synovitis granulomatous with uveitis and cranial neuropathies
      * Syphilis
      * Syphilis, congenital
      * Syphilis, latent
      * Syphilis, primary
      * Syphilis, secondary
      * Syphilis, tertiary
      * Syphilitic aseptic meningitis
      * Syphilitic myelopathy (tabes dorsalis)
      * Syringobulbia
      * Syringocystadenoma papilliferum
      * Syringomas natal teeth oligodontia
      * Syringomelia hyperkeratosis
      * Syringomyelia
      * Systemic candidiasis
      * Systemic carnitine deficiency
      * Systemic mastocytosis
      * Systemic necrotizing angitis




      T


      * T cell immunodeficiency primary
      * Tabatznik syndrome
      * Takayasu arteritis
      * Tako-Tsubo syndrome
      * Talipes equinovarus
      * Talonavicular coalition
      * Talo-patello-scaphoid osteolysis, synovitis, and short fourth metacarpals
      * Tamari Goodman syndrome
      * Tang Hsi Ryu syndrome
      * Tangier disease
      * TAR syndrome
      * Tardive dyskinesia
      * Tarlov cysts
      * TARP syndrome
      * Tarsal carpal coalition syndrome
      * Tarsal tunnel syndrome
      * TAU syndrome
      * Taurodontia absent teeth sparse hair
      * Taurodontism
      * Taurodontism, microdontia, and dens invaginatus
      * Tay-Sachs disease
      * T-cell immunodeficiency, congenital alopecia and nail dystrophy
      * T-cell lymphoma 1A
      * Teebi Kaurah syndrome
      * Teebi Naguib Al Awadi syndrome
      * Teebi Shaltout syndrome
      * Teebi syndrome
      * Teeth noneruption of with maxillary hypoplasia and genu valgum
      * Tel Hashomer camptodactyly syndrome
      * Telencephalic leukoencephalopathy
      * Telfer Sugar Jaeger syndrome
      * Temporal arteritis
      * Temporal epilepsy, familial
      * Temporomandibular ankylosis
      * Temtamy preaxial brachydactyly syndrome
      * Temtamy syndrome
      * TEN
      * Tendons, extensor, of fingers, anomalous insertion of
      * Testicular cancer
      * Testotoxicosis
      * Tetanus
      * Tetra amelia with ectodermal dysplasia and lacrimal duct abnormalities
      * Tetra- amelia X-linked
      * Tetra-amelia autosomal recessive
      * Tetraamelia multiple malformations
      * Tetra-amelia with pulmonary hypoplasia
      * Tetrahydrobiopterin deficiencies
      * Tetralogy of fallot and glaucoma
      * Tetraploidy
      * Tetrasomy X
      * Thakker Donnai syndrome
      * Thalamic degeneration symmetrical infantile
      * Thalamic degeneration, symmetric infantile
      * Thalamic syndrome
      * Thalassemia
      * Thalassemia minor
      * Thanatophoric dysplasia Glasgow variant
      * Thanatophoric dysplasia, type 1
      * Thanatophoric dysplasia, type 2
      * Thanos Stewart Zonana syndrome
      * Theodor Hertz Goodman syndrome
      * Thiamine responsive megaloblastic anemia syndrome
      * Thickened earlobes with conductive deafness from incus-stapes abnormalities
      * Thiele syndrome
      * Thies Reis syndrome
      * Thin ribs tubular bones dysmorphism
      * Thiolase deficiency
      * Thiopurine S methyltranferase deficiency
      * Thomas Jewett Raines syndrome
      * Thomas syndrome
      * Thompson Baraitser syndrome
      * Thong Douglas Ferrante syndrome
      * Thoracic celosomia
      * Thoracic dysplasia hydrocephalus syndrome
      * Thoracic outlet syndrome
      * Thoraco abdominal enteric duplication
      * Thoraco limb dysplasia Rivera type
      * Thoracolaryngopelvic dysplasia
      * Thoracopelvic dysostosis
      * Thost-Unna palmoplantar keratoderma
      * Thrombasthenia
      * Thrombasthenia of Glanzmann and Naegeli
      * Thrombocytopathy
      * Thrombocytopathy asplenia miosis
      * Thrombocytopenia cerebellar hypoplasia short stature
      * Thrombocytopenia chromosome breakage
      * Thrombocytopenia Robin sequence
      * Thrombocytopenia X-linked
      * Thrombocytopenia, cyclic
      * Thrombocytopenic purpura, autoimmune
      * Thrombomodulin anomalies, familial
      * Thrombotic thrombocytopenic purpura, acquired
      * Thrombotic thrombocytopenic purpura, congenital
      * Thumb absence hypoplastic halluces
      * Thumb absent short stature immune deficiency
      * Thumb deformity
      * Thumb deformity, alopecia, pigmentation anomaly
      * Thumb stiff brachydactyly mental retardation
      * Thymic epithelial tumor
      * Thymic hyperplasia
      * Thymic-Renal-Anal-Lung dysplasia
      * Thyrocerebral-retinal syndrome
      * Thyroglossal tract cyst
      * Thyroid agenesis
      * Thyroid cancer, anaplastic
      * Thyroid cancer, familial medullary
      * Thyroid cancer, follicular
      * Thyroid cancer, Hurthle cell
      * Thyroid cancer, medullary
      * Thyroid cancer, papillary
      * Thyroid hormone plasma membrane transport defect
      * Thyrotropin deficiency, isolated
      * Tibia absent polydactyly arachnoid cyst
      * Tibiae bowed radial anomalies osteopenia fracture
      * Tibial aplasia ectrodactyly
      * Tibial aplasia ectrodactyly hydrocephalus
      * Tibial hemimelia cleft lip palate
      * Tick paralysis
      * Tick-borne encephalitis
      * Tièche-Jadassohn nevus
      * Tietz syndrome
      * Tietze syndrome
      * Tight skin contracture syndrome, lethal
      * Tiglic acidemia
      * Timothy syndrome
      * T-Lymphocytopenia
      * Togaviridae disease
      * Tollner Horst Manzke syndrome
      * Tolosa-Hunt syndrome
      * Tomaculous neuropathy
      * Tome Brune Fardeau syndrome
      * Tongue neoplasm
      * Toni-Debre-Fanconi syndrome
      * Toni-Fanconi syndrome
      * Tonoki syndrome
      * TORCH syndrome
      * Toriello Carey syndrome
      * Toriello Lacassie Droste syndrome
      * Toriello syndrome
      * Toriello-Higgins-Miller syndrome
      * Torsion dystonia
      * Torsion dystonia 7
      * Torsion dystonia with onset in infancy
      * Torticollis keloids cryptorchidism renal dysplasia
      * Torticollis, familial
      * Torulopsis
      * Total Hypotrichosis, Mari type
      * Touraine-Solente-Golé syndrome
      * Townes-Brocks syndrome
      * Toxocariasis
      * Tracheal agenesis
      * Tracheal agenesis without tracheoesophageal fistula
      * Tracheobronchomalacia
      * Tracheobronchomegaly
      * Tracheobronchopathia osteoplastica
      * Tracheoesophageal fistula
      * Tracheoesophageal fistula symphalangism
      * Tracheophageal fistula hypospadias
      * Tranebjaerg Svejgaard syndrome
      * Transcobalamin 2 deficiency
      * Transient bullous dermolysis of the newborn
      * Transient erythroblastopenia of childhood
      * Transient Global Amnesia
      * Transient neonatal arthrogryposis
      * Transitional cell carcinoma
      * Transplacental infections
      * Transposition of great arteries
      * Transverse limb deficiency hemangioma
      * Transverse myelitis neuromyelitis optica
      * Transverse myelitits
      * Treacher Collins syndrome
      * Treft Sanborn Carey syndrome
      * Tremor hereditary essential, 1
      * Tremor hereditary essential, 2
      * Tremors, nystagmus and duodenal ulcers
      * Treponema infection
      * Trichinellosis
      * Tricho odonto onycho dermal syndrome
      * Tricho odonto onychodysplasia syndactyly dominant type
      * Tricho onychic dysplasia
      * Tricho onycho hypohidrotic dysplasia
      * Tricho retino dento digital syndrome
      * Trichodental syndrome
      * Tricho-dento-osseous syndrome
      * Tricho-dento-osseous syndrome 1
      * Trichodermodysplasia dental alterations
      * Trichodysplasia xeroderma
      * Trichoepithelioma multiple familial
      * Trichofolliculoma
      * Tricho-hepato-enteric syndrome
      * Trichomalacia
      * Trichomegaly cataract hereditary spherocytosis
      * Trichomegaly with mental retardation, dwarfism and pigmentary degeneration of retina
      * Trichoodontoonychial dysplasia
      * Trichorhinophalangeal syndrome type 1
      * Trichorhinophalangeal syndrome type 2
      * Trichorhinophalangeal syndrome type 3
      * Trichorrhexis nodosa syndrome
      * Trichoscyphodysplasia
      * Trichostasis spinulosa
      * Trichothiodystrophy
      * Trichothiodystrophy sun sensitivity
      * Trichotillomania
      * Tricuspid atresia
      * Trigeminal neuralgia
      * Trigger thumb
      * Triglyceride storage disease with impaired long-chain fatty acid oxidation
      * Trigonocephaly bifid nose acral anomalies
      * Trigonocephaly broad thumbs
      * Trigonocephaly ptosis coloboma
      * Trigonocephaly ptosis mental retardation
      * Trigonomacrocephaly tibial defect polydactyly
      * Trihydroxycholestanoylcoa oxidase isolated deficiency
      * Trimethylaminuria
      * Triopia
      * Triose phosphate-isomerase deficiency
      * Triphalangeal thumb non opposable
      * Triphalangeal thumb polysyndactyly syndrome
      * Triphalangeal thumbs brachyectrodactyly
      * Triploid Syndrome
      * Trisomy 1 mosaicism
      * Trisomy 11 mosaicism
      * Trisomy 12 mosaicism
      * Trisomy 2 & 5 pseudomosaicism
      * Trisomy 2 mosaicism
      * Trisomy 3 mosaicism
      * Trisomy 6
      * Trochlear dysplasia
      * Tropical Spastic Paraparesis
      * Tropical sprue
      * Trueb Burg Bottani syndrome
      * Trypanosomiasis, east-African
      * Trypanosomiasis, west African
      * Tsao Ellingson syndrome
      * Tsukahara Azuno Kajii syndrome
      * Tsukahara Kajii syndrome
      * Tsukuhara syndrome
      * Tuberculosis
      * Tuberculosis, pulmonary
      * Tuberculous meningitis
      * Tuberculous uveitis
      * Tuberous sclerosis
      * Tuberous sclerosis, type 1
      * Tuberous sclerosis, type 2
      * Tubulointerstitial nephritis and uveitis
      * Tucker syndrome
      * Tuffli Laxova syndrome
      * Tufted angioma
      * Tukel syndrome
      * Tularemia
      * Tungiasis
      * Tunglang Savage Bellman syndrome
      * Turcot syndrome
      * Turner syndrome
      * Turner-like syndrome
      * Twin twin transfusion syndrome
      * Tylosis
      * Typhoid
      * Typhoid fever
      * Typhus
      * Tyrosine transaminase deficiency
      * Tyrosinemia
      * Tyrosinemia type 1
      * Tyrosine-oxidase temporary deficiency

    8. #8
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      U


      * Uhl anomaly
      * Ulerythema ophryogenesis
      * Ulna hypoplasia with mental retardation
      * Ulna metaphyseal dysplasia syndrome
      * Ulnar hypoplasia lobster claw deformity of feet
      * Ulnar-mammary syndrome
      * Umbilical cord ulceration and intestinal atresia
      * Uncombable hair syndrome
      * Uniparental disomy
      * Uniparental disomy of 6
      * Uniparental disomy of 11
      * Uniparental disomy of 13
      * Uniparental disomy of chromosome 2
      * Uniparental disomy, paternal, chromosome 14
      * Upington disease
      * Upton Young syndrome
      * Urachal adenocarcinoma
      * Urachal cancer
      * Urachal cyst
      * Urban Schosser Spohn syndrome
      * Urea cycle disorders
      * Urethral cancer
      * Urethral obstruction sequence
      * Urinary tract neoplasm
      * Urioste Martinez-Frias syndrome
      * Urocanase deficiency
      * Urofacial syndrome
      * Urogenital adysplasia
      * Urogenital adysplasia, hereditary
      * Uropathy distal obstructive polydactyly
      * Urticaria pigmentosa
      * Usher syndrome
      * Usher syndrome, type 1
      * Usher syndrome, type 1B
      * Usher syndrome, type 1C
      * Usher syndrome, type 1D
      * Usher syndrome, type 1E
      * Usher syndrome, type 1F
      * Usher syndrome, type 2A
      * Usher syndrome, type 2B
      * Usher syndrome, type 2C
      * Usher syndrome, type 3
      * Uterine sarcoma
      * Uveal diseases
      * Uveal melanoma



      V


      * VACTERL association
      * VACTERL association with hydrocephaly, X-linked
      * VACTERL hydrocephaly
      * Vacuolar myopathy
      * Vagina, absence of
      * Vaginal cancer
      * Vagneur Triolle Ripert syndrome
      * Valinemia
      * Valproic acid antenatal infection
      * Van Allen Myhre syndrome
      * Van Bogaert-Hozay syndrome
      * Van Buchem disease type 2
      * Van Den Bosch syndrome
      * Van der Woude syndrome
      * Van der Woude syndrome 2
      * Van Goethem syndrome
      * Van Maldergem Wetzburger Verloes syndrome
      * Van Regemorter Pierquin Vamos syndrome
      * Vancomycin-resistant enterococcal bacteremia
      * Varadi Papp syndrome
      * Variant Creutzfeldt-Jakob disease
      * Varicella virus antenatal infection
      * Varicella Zoster
      * Variegate porphyria
      * Vascular malposition
      * Vasculitis hypersensitivity
      * Vasculitis, autoimmune
      * Vasculitis, cutaneous necrotizing
      * Vasopressin-resistant diabetes insipidus
      * Vasquez Hurst Sotos syndrome
      * VATER association
      * Vein of Galen aneurysm
      * Velocardiofacial syndrome
      * Velofacioskeletal syndrome
      * Velopharyngeal incompetence
      * Venencie Powell Winkelmann syndrome
      * Ventricular extrasystoles perodactyly Robin sequence
      * Ventricular familial preexcitation syndrome
      * Ventricular fibrillation, idiopathic
      * Ventricular septal defects
      * Ventriculo-arterial discordance, isolated
      * Ventruto Digirolamo Festa syndrome
      * Verloes Bourguignon syndrome
      * Verloes Gillerot Fryns syndrome
      * Verloes Van Maldergem Marneffe syndrome
      * Verloove Vanhorick Brubakk syndrome
      * Vernal keratoconjunctivitis
      * Verrucous nevus
      * Verrucous nevus acanthokeratolytic
      * Vertebral body fusion overgrowth
      * Vertebral fusion posterior lumbosacral blepharoptosis
      * Vertical talus, congenital
      * Vestibulocochlear dysfunction progressive familial
      * Vibratory angioedema
      * Vibrio vulnificus infection
      * Vibrios (other than Vibrio cholerae)
      * Viljoen Kallis Voges syndrome
      * Viljoen Smart syndrome
      * Viljoen Winship syndrome
      * VIPoma
      * Viral hemorrhagic fever
      * Virilizing ovarian tumor
      * Virus associated hemophagocytic syndrome
      * Visceral myopathy familial external ophthalmoplegia
      * Visceral steatosis
      * Viscero-atrial heterotaxia
      * Vitamin A embryopathy
      * Vitamin D resistant rickets
      * Vitiligo mental retardation facial dysmorphism uremia
      * Vitreoretinal degeneration
      * Vitreoretinochoroidopathy dominant
      * VLCAD deficiency
      * Vocal cord dysfunction familial
      * Vogt-Koyanagi-Harada syndrome
      * Vohwinkel syndrome
      * Von Gierke disease
      * Von Hippel-Lindau syndrome
      * Von Willebrand disease
      * Von Willebrand disease, dominant form
      * Von Willebrand disease, platelet type
      * Von Willebrand disease, recessive form
      * Vulvar cancer
      * Vulvar Vestibulitis Syndrome



      W



      * Waaler Aarskog syndrome
      * Waardenburg syndrome
      * Waardenburg syndrome type 1
      * Waardenburg syndrome type 2
      * Waardenburg syndrome type 2A
      * Waardenburg syndrome type 2B
      * Waardenburg syndrome type 3
      * Waardenburg syndrome, type 4
      * WAGR syndrome
      * Walbaum Titran Durieux Crepin syndrome
      * Waldenstrom macroglobulinemia
      * Waldmann disease
      * Walker Dyson syndrome
      * Wallenberg's syndrome
      * Wallerian degeneration
      * Wandering spleen
      * Warburg Sjo Fledelius syndrome
      * Warburton Anyane Yeboa syndrome
      * Warfarin syndrome
      * Warman Mulliken Hayward syndrome
      * Warm-reacting-antibody hemolytic anemia
      * Warthin's tumor
      * Waterhouse–Friderichsen syndrome
      * Watermelon stomach
      * Watson syndrome
      * WDHA syndrome
      * Weaver Johnson syndrome
      * Weaver like syndrome
      * Weaver syndrome
      * Weaver Williams syndrome
      * Weber syndrome
      * Weber-Christian disease
      * Webster Deming syndrome
      * Wegener's granulomatosis
      * Wegmann Jones Smith syndrome
      * Weinstein Kliman Scully syndrome
      * Weismann Netter Stuhl syndrome
      * Welander distal myopathy, Swedish type
      * Weleber Hecht Bigley syndrome
      * Wellesley Carmen French syndrome
      * Wells Jankovic syndrome
      * Wells syndrome
      * Werdnig-Hoffmann disease
      * Werner's syndrome
      * Wernicke-Korsakoff syndrome
      * West nile encephalitis
      * West nile virus
      * West syndrome
      * Western equine encephalitis
      * Western/Eastern/California encephalitis
      * Westphal disease
      * Weyers acrofacial dysostosis
      * Weyers ulnar ray/oligodactyly syndrome
      * WHIM syndrome
      * Whipple disease
      * Whispering dysphonia, hereditary
      * Whistling face syndrome, recessive form
      * Whitaker syndrome
      * White forelock with malformations
      * White matter hypoplasia, corpus callosum agenesia, and mental retardation
      * White platelet syndrome
      * White sponge nevus of cannon
      * Whooping cough
      * Wieacker syndrome
      * Wiedemann Grosse Dibbern syndrome
      * Wiedemann Oldigs Oppermann syndrome
      * Wiedemann Opitz syndrome
      * Wildervanck syndrome
      * Wilkes Stevenson syndrome
      * Wilkie Taylor Scambler syndrome
      * Willebrand disease, acquired
      * Willems De vries syndrome
      * Williams syndrome
      * Wilms' tumor
      * Wilms tumor and pseudohermaphroditism
      * Wilms tumor and radial bilateral aplasia
      * Wilson disease
      * Wilson-Turner X-linked mental retardation syndrome
      * Winchester syndrome
      * Winkelman Bethge Pfeiffer syndrome
      * Winship Viljoen Leary syndrome
      * Winter Harding Hyde syndrome
      * Winter Shortland Temple syndrome
      * Wisconsin syndrome
      * Wiskott Aldrich syndrome
      * Witkop syndrome
      * Wittwer syndrome
      * Wohlwill-Andrade syndrome
      * Wolcott-Rallison syndrome
      * Wolffian tumor
      * Wolff-Parkinson-White syndrome
      * Wolf-Hirschorn syndrome
      * Wolfram syndrome
      * Wolman disease
      * Woodhouse Sakati syndrome
      * Woods Black Norbury syndrome
      * Woods Leversha Rogers syndrome
      * Woolly hair, congenital
      * Woolly hair, hypotrichosis, everted lower lip and outstanding ears
      * Worster Drought syndrome
      * Worth syndrome
      * Wright Dyck syndrome
      * Wrinkly skin syndrome
      * WT limb blood syndrome
      * Wyburn Mason's syndrome




      X



      * X chromosome, duplication Xq13 1 q21 1
      * X chromosome, monosomy Xp22 pter
      * X chromosome, monosomy Xq28
      * X chromosome, trisomy 26-28
      * X chromosome, trisomy Xp3
      * X chromosome, trisomy Xpter Xq13
      * X chromosome, trisomy Xq
      * X chromosome, trisomy Xq25
      * X fragile site folic acid type
      * Xanthic urolithiasis
      * Xanthine oxydase deficiency
      * Xanthinuria
      * Xanthogranulomatous cholecystitis
      * Xanthogranulomatous sialadenitis
      * Xerocytosis, hereditary
      * Xeroderma pigmentosum
      * Xeroderma pigmentosum, type 1
      * Xeroderma pigmentosum, type 2
      * Xeroderma pigmentosum, type 3
      * Xeroderma pigmentosum, type 5
      * Xeroderma pigmentosum, type 6
      * Xeroderma pigmentosum, type 7
      * Xeroderma pigmentosum, type 9
      * Xeroderma pigmentosum, variant type
      * Xeroderma talipes enamel defects
      * XK aprosencephaly
      * X-linked adrenal hypoplasia congenita
      * X-linked adrenoleukodystrophy
      * X-linked agammaglobulinemia
      * X-linked alpha thalassemia mental retardation syndrome (ATR-X)
      * X-linked ichthyosis
      * X-linked lymphoproliferative syndrome
      * X-linked mental retardation and macro-orchidism
      * X-linked mental retardation associated with marXq2
      * X-linked mental retardation Brooks type
      * X-linked mental retardation craniofacial abnormal microcephaly club
      * X-linked mental retardation De silva type
      * X-linked mental retardation Gustavson type
      * X-linked mental retardation Hamel type
      * X-linked mental retardation type Martinez
      * X-linked mental retardation type Raynaud
      * X-linked mental retardation type Schutz
      * X-linked mental retardation type Wittwer
      * X-linked sideroblastic anemia
      * XX male syndrome
      * XY Female



      Y

      * Y chromosome deletions
      * Y chromosome pericentric inversion
      * Yaws
      * Yellow fever
      * Yellow nail syndrome
      * Yemenite deaf-blind hypopigmentation syndrome
      * Yim Ebbin syndrome
      * Yolk sac tumor
      * Yorifuji Okuno syndrome
      * Young Hughes syndrome
      * Young McKeever Squier syndrome
      * Young Simpson syndrome
      * Young Syndrome
      * Yunis Varon syndrome
      * Yusho Disease


      Z


      * Zadik Barak Levin syndrome
      * ZAP70 deficiency
      * Zazam Sheriff Phillips syndrome
      * Zellweger syndrome
      * Zerres Rietschel Majewski syndrome
      * Zimmerman Laband syndrome
      * Zlotogora syndrome
      * Zollinger-Ellison syndrome
      * Zonular cataract and nystagmus
      * Zori Stalker Williams syndrome
      * Zunich neuroectodermal syndrome
      * Zuska's Disease
      * Zygomycosis


      0-49


      * 10q Partial trisomy
      * 17 Beta-hydroxysteroid dehydrogenase deficiency
      * 18-Hydroxylase deficiency
      * 1p36.33 deletion
      * 2-hydroxyethyl methacrylate sensitization
      * 2-Hydroxyglutaricaciduria
      * 2-Methylacetoacetyl CoA thiolase deficiency
      * 3 alpha methylcrotonyl-Coa carboxylase 1 deficiency
      * 3 alpha methylcrotonyl-coa carboxylase 2 deficiency
      * 3-@hydroxyacyl-coa dehydrogenase deficiency
      * 3-@methylglutaconic aciduria, type III
      * 3C syndrome
      * 3-Hydroxyisobutyric aciduria
      * 3M syndrome
      * 46,XX Gonadal dysgenesis epibulbar dermoid
      * 47 XYY syndrome
      * 47,XXX syndrome
      * 49,XXXXX syndrome
      * 49,XXXXY syndrome
      * 4-hydroxyphenylacetic aciduria
      vitrag24 likes this.

    9. #9
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      **edited**
      Last edited by vitrag24; 08-14-2011 at 10:16 AM. Reason: Spammed links

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